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Gene: Cd28 MGI:88327

Gene Summary

Name:

CD28 antigen

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased T cell number	Cd28^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased CD4-positive, alpha-beta T cell number	Cd28^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	5.46×10^-07
increased leukocyte cell number	Cd28^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	3.00×10^-06

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cd28 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Cd28 (2 diseases)
Human diseases predicted to be associated with Cd28 (610 diseases)

The table below shows human diseases associated to Cd28 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Sézary Syndrome		Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Erythroderma, Splenomegaly	ORPHA:3162
Classic Mycosis Fungoides		Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:2584

The table below shows human diseases predicted to be associated to Cd28 by phenotypic similarity.

Disease	Matching phenotypes	Source
Complement Component 8 Deficiency, Type I	Meningitis, Systemic lupus erythematosus	OMIM:613790
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1	Recurrent herpes, Herpes simplex encephalitis	OMIM:610551
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
C1Q Deficiency 3	Discoid lupus rash, Antinuclear antibody positivity, Recurrent bacterial meningitis	OMIM:620322
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent sinusitis,...	OMIM:613494
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10	Herpes simplex encephalitis	OMIM:619396
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ...	OMIM:618944
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Immunodeficiency 18	Recurrent pneumonia, Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat...	OMIM:300310
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet...	OMIM:618459
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,...	OMIM:613500
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve...	OMIM:607271
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Viral encephalitis	OMIM:619441
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ...	OMIM:618987
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,...	OMIM:300400
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia	OMIM:300988
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul...	OMIM:619924
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5	Herpes simplex encephalitis	OMIM:614849
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Secretory Component Deficiency	Chronic intestinal candidiasis, Secretory IgA deficiency	OMIM:269650
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea...	OMIM:619281
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil...	OMIM:617638
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi...	OMIM:620449
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Lupus Erythematosus Tumidus	Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Deep dermal perivascular inflamm...	ORPHA:90283
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7	Herpes simplex encephalitis	OMIM:616532
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count	OMIM:613495
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ...	OMIM:607594
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Immunodeficiency 8 With Lymphoproliferation	Recurrent otitis media, Lymphopenia, Complete or near-complete absence of specific antibody respo...	OMIM:615401
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6	Recurrent aphthous stomatitis, Herpes simplex encephalitis	OMIM:614850
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia	OMIM:616941
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
C1Q Deficiency 1	Recurrent infections, Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus eryt...	OMIM:613652
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Autoimmune thrombocytopenia, Recurrent skin ...	OMIM:301082
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func...	OMIM:240500
Neutropenia, Chronic Familial	Periodontitis, Neutropenia, Increased circulating antibody level	OMIM:162700
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Bronchiectasis	OMIM:615139
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy...	OMIM:267500
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Systemic Lupus Erythematosus 16	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu...	OMIM:614420
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cell morphology, Agammagl...	OMIM:615214
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus	OMIM:613791
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Eczematoid dermatitis, Increa...	OMIM:619774
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Defective T cell proliferation, Eczematoid dermatitis	OMIM:614493
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease...	OMIM:618394
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com...	OMIM:301081
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Immunodeficiency 37	Colitis, Recurrent infections, Infectious encephalitis	OMIM:616098
Myeloma, Multiple	Paraproteinemia	OMIM:254500
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po...	OMIM:312863
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Atopic dermatitis, Decreased proportion of memory B cells, Decreased specific anti-polysaccharide...	ORPHA:70593
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus	OMIM:613783
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro...	ORPHA:98813
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T c...	OMIM:613501
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Meningitis, Herpes simplex encephalitis	OMIM:617900
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Partial absence of specific antibody respo...	OMIM:618261
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Autoimmunity, Recurrent bronchitis, Arthritis	OMIM:216950
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, D...	OMIM:614069
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Lymphopenia, Decrease...	OMIM:616100
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat...	OMIM:617514
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased proportion of...	OMIM:614878
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hypertriglyceridemia	OMIM:608898
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent pneumonia, Atopic dermatitis, Reduced natural killer c...	OMIM:619752
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Abnormal natural killer cell physiology, Recurrent ...	OMIM:613101
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor...	ORPHA:331206
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Immunoglobulin Kappa Light Chain Deficiency	Absent circulating immunoglobulin kappa chain	OMIM:614102
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo...	OMIM:619846
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Impaired lymph...	OMIM:617006
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot...	OMIM:620210
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia	ORPHA:209004
Autoimmune Lymphoproliferative Syndrome, Type Iii	Anticardiolipin IgG antibody positivity, Recurrent otitis media, Autoimmunity, Autoimmune hemolyt...	OMIM:615559
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Immunodeficiency 83, Susceptibility To Viral Infections	Meningitis, Herpes simplex encephalitis	OMIM:613002
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis, Neutropenia	OMIM:193670
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Inflammation of the large intestine, Abnormal T cell count, Incr...	OMIM:615767
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o...	OMIM:619802
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ...	OMIM:601859
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Pneumon...	ORPHA:436159
Immunodeficiency 81	Skin rash, Autoimmune hemolytic anemia, Impaired neutrophil chemotaxis, Reduced antigen-specific ...	OMIM:619374
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac...	OMIM:618108
Immunodeficiency 46	Intermittent thrombocytopenia, Neutropenia, Anemia, Conjunctivitis, Decreased circulating antibod...	OMIM:616740
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level	OMIM:613078
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
L-2-Hydroxyglutaric Aciduria	Infectious encephalitis	ORPHA:79314
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Immunodeficiency 20	Recurrent otitis media, Reduced natural killer cell activity, Recurrent sinusitis	OMIM:615707
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level, Inflammatory abnormality of the skin	ORPHA:90159
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:615577
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Decreas...	OMIM:617241
Cernunnos-Xlf Deficiency	Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin...	ORPHA:169079
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos...	OMIM:615758
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni...	OMIM:601457
Mhc Class Ii Deficiency 1	Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c...	OMIM:209920
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612783
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport...	OMIM:300853
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:35078
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Ciliary Dyskinesia, Primary, 29	Decreased circulating antibody level, Bronchiectasis	OMIM:615872
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Complement Component 4B Deficiency	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Menin...	OMIM:614379
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ...	OMIM:300635
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Recurrent aphthous...	OMIM:612782
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ...	OMIM:616576
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl...	ORPHA:2585
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Decreas...	OMIM:618116
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia	ORPHA:158014
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph...	ORPHA:169154
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Ecz...	OMIM:243700
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Decreased circulating IgG level, Decreased circulating antibody level, Fulminant...	OMIM:308240
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Insulin Autoimmune Syndrome	Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Increased circulating...	ORPHA:411593
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Inflammatory abnormality of the skin, Recurrent pneumonia, Lack ...	ORPHA:277
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Pfapa Syndrome	Recurrent pharyngitis, Arthritis, Infectious encephalitis	ORPHA:42642
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr...	OMIM:619693
Agammaglobulinemia, X-Linked	Recurrent otitis media, Prostatitis, Neutropenia, Epididymitis, Pyoderma, Recurrent sinusitis, An...	OMIM:300755
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent enteroviral infections, Conjunctivitis, Enteroviral dermatomyositis syndrome...	OMIM:307200
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia	OMIM:618495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Severe B lymphocytopenia, C...	OMIM:102700
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increased circulating IgG...	OMIM:209950
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Increased circulating ferritin concentration, Skin rash, Enterocolitis, Elevated...	OMIM:616050
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Increased circulating interleukin 6 concentration, Increased circulating interfe...	ORPHA:540
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Complement Factor B Deficiency	Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis	OMIM:615561
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level, Recurrent skin infections	OMIM:617744
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit...	ORPHA:169160
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Increased B cell count, Splenomega...	OMIM:603909
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Hepatitis, Abnormal circulati...	OMIM:308230
Eosinophilopenia	Allergic rhinitis, Autoimmunity	OMIM:131430
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Malar ras...	ORPHA:90280
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Recurrent otitis media, Decreased circulating antibody level, Abnormal B cell...	OMIM:616910
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Reticular Dysgenesis	Leukopenia, Skin rash, Anemia, Abnormality of neutrophils, Decreased circulating antibody level, ...	ORPHA:33355
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Neonatal Alloimmune Neutropenia	Pneumonia, Antineutrophil antibody positivity, Severe infection, Neutropenia in presence of anti-...	ORPHA:464370
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA...	OMIM:618048
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Eczematoid dermatitis, Superficial dermal perivascular inflammat...	OMIM:620632
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Alpha-Heavy Chain Disease	Anemia, Dysgammaglobulinemia, Splenomegaly	ORPHA:100025
Crigler-Najjar Syndrome	Infectious encephalitis	ORPHA:205
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia...	OMIM:275350
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly, Chronic si...	ORPHA:397596
Nipah Virus Disease	Recurrent pharyngitis, Infectious encephalitis	ORPHA:99825
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Splenomegaly, Increased circulating antibody level	ORPHA:100024
Q Fever	Anticardiolipin IgG antibody positivity, Pneumonia, Unusual infection, Hepatitis, Osteomyelitis, ...	ORPHA:781
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ...	OMIM:617780
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Autoimmunity, Autoimmune hemolyt...	ORPHA:444463
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Immunodeficiency 104	T lymphocytopenia, Splenomegaly	OMIM:608971
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level, Decreased proportion of CD4-positive T cells	OMIM:301045
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Reduced proportion...	ORPHA:90362
Zika Virus Disease	Myelitis, Skin rash, Infectious encephalitis, Meningitis, Arthritis, Conjunctivitis, Maculopapula...	ORPHA:448237
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	ORPHA:276
Aspergillosis	Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Invasive pulmonary aspergillosis, Osteomy...	ORPHA:1163
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level, Colitis	OMIM:615190
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci...	ORPHA:2688
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
American Trypanosomiasis	Myocarditis, Autoimmune antibody positivity, Skin rash, Infectious encephalitis	ORPHA:3386
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Membranoproliferative g...	OMIM:613779
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in r...	OMIM:600802
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ...	OMIM:618986
Schnitzler Syndrome	Leukocytosis, Skin rash, Splenomegaly, Arthritis, Anemia, Increased circulating IgM level	ORPHA:37748
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Rectal abscess, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent ...	OMIM:601495
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Epididy...	ORPHA:183675
Papa Syndrome	Crohn's disease, Increased inflammatory response, Myositis, Increased circulating antibody level,...	ORPHA:69126
Scrub Typhus	Skin rash, Infectious encephalitis, Myocarditis, Meningitis, Anterior uveitis	ORPHA:83317
Lyme Disease	Meningitis, Infectious encephalitis, Arthritis, Uveitis	ORPHA:91546
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Decreased lymphocyte proliferation in response to mitogen, Abnor...	ORPHA:572
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut...	OMIM:618282
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ...	OMIM:615122
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:620040
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Increased circulating IgE level, Abnormal delayed hypersensi...	OMIM:301000
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Recurrent aphthous stomatitis, Decreased circulating IgA level, ...	ORPHA:275
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune th...	OMIM:608184
Immunodeficiency 68	Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia	OMIM:612260
New-Onset Refractory Status Epilepticus	Autoimmunity, Infectious encephalitis	ORPHA:363558
Boutonneuse Fever	Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Thrombocytopenia	ORPHA:83313
Bacterial Toxic-Shock Syndrome	Pneumonia, Severe varicella zoster infection, Hepatitis, Severe viral infection, Recurrent urinar...	ORPHA:36234
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec...	ORPHA:221139
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Erythroderma, M...	ORPHA:139402
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Immunodeficiency 32B	Pneumonia, Neutrophilia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, ...	OMIM:226990
Immunodeficiency 56	Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent sinusitis, Chron...	OMIM:615207
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, E...	OMIM:620532
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczematoid dermatitis, Thyroiditis	OMIM:618985
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega...	OMIM:612301
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Typhoid	Skin rash, Infectious encephalitis	ORPHA:99745
Aicardi-Goutieres Syndrome 6	Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia, Hepatomegal...	OMIM:615010
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating IgA level, In...	OMIM:617388
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Anti-Ro/SS-A antibody positivity, Anti-dsDNA antibody positivity, Malar rash,...	ORPHA:163525
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ...	ORPHA:48377
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen...	OMIM:242700
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sinusitis, Ne...	ORPHA:33110
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Increased circulating IgE level, Lymphopenia,...	OMIM:620603
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Immunodeficiency 12	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent aphthous stomatitis, Comple...	OMIM:615468
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Bone Marrow Failure Syndrome 5	Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level	OMIM:618165
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Immune Dysregulation, Autoimmunity, And Autoinflammation	Increased circulating interleukin 8 concentration, Antinuclear antibody positivity, Decreased cir...	OMIM:620514
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop...	ORPHA:217390
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ...	ORPHA:48104
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de...	ORPHA:391487
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:607143
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati...	OMIM:300972
Mogs-Cdg	Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Thrombocyto...	ORPHA:79330
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P...	OMIM:618213
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, T lymphocytopenia,...	OMIM:242860
Avian Influenza	Pneumonia, Myelitis, Hepatitis, Infectious encephalitis, Conjunctivitis, Meningitis	ORPHA:454836
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Skin ra...	OMIM:603553
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Hereditary Folate Malabsorption	Pancytopenia, Decreased circulating antibody level, Eosinophilia, Megaloblastic anemia, Thrombocy...	ORPHA:90045
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy...	OMIM:619313
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter...	ORPHA:85410
Legionnaires Disease	Hepatitis, Infectious encephalitis, Pancreatitis, Recurrent pharyngitis, Myocarditis, Endocarditi...	ORPHA:549
Cerebral Visual Impairment	Meningitis, Unusual CNS infection, Infectious encephalitis	ORPHA:447788
Isolated Agammaglobulinemia	Pneumonia, Autoimmunity, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality ...	ORPHA:229717
Hartnup Disease	Skin rash, Infectious encephalitis	ORPHA:2116
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Eczematoid dermatitis, Hepatosplenomegaly, Decreased circulating antibody level, Interstitial pne...	OMIM:615952
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increa...	OMIM:602450
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Infectious encephalitis	ORPHA:1194
Reynolds Syndrome	Keratoconjunctivitis sicca, Skin rash, Arthritis, Infectious encephalitis	ORPHA:779
Congenital Enterovirus Infection	Hepatitis, Skin rash, Infectious encephalitis, Myocarditis, Meningitis	ORPHA:292
Maternal Uniparental Disomy Of Chromosome 1	Pancytopenia, Panhypogammaglobulinemia	ORPHA:251009
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Skin rash, Increased proportion of CD4-positive T cells, Increased circulating IgA ...	OMIM:617099
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,...	ORPHA:420741
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca	OMIM:270150
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Bloom Syndrome	Pneumonia, Decreased circulating IgG level, Cheilitis, Decreased circulating IgA level, Acute lym...	ORPHA:125
Wolfram Syndrome 2	Decreased circulating antibody level, Impaired collagen-induced platelet aggregation	OMIM:604928
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Recurrent skin infections...	OMIM:619381
Nocardiosis	Pneumonia, Unusual CNS infection, Lymphadenitis, Cutaneous abscess, Keratitis, Brain abscess, Ost...	ORPHA:31204
Systemic Lupus Erythematosus, Susceptibility To, 6	Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pericarditis	OMIM:609939
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Increased circulating ...	OMIM:256500
Bloom Syndrome	Decreased circulating IgG level, Leukemia, Decreased circulating IgA level, Malar rash, Decreased...	OMIM:210900
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Leukocytosis, Otitis media, Skin rash, Increased cir...	ORPHA:3392
Scedosporiosis	Pneumonia, Unusual CNS infection, Unusual skin infection, Invasive fungal infection, Septic arthr...	ORPHA:449280
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hepatosplenomegaly, Eosinophi...	ORPHA:353298
Listeriosis	Pneumonia, Unusual CNS infection, Arteritis, Unusual skin infection, Septic arthritis, Brain absc...	ORPHA:533
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Anemia, Arthritis, ...	ORPHA:47
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Microsporidiosis	Pneumonia, Nephritis, Bronchiolitis, Lymphadenitis, Hepatitis, Keratitis, Brain abscess, Osteomye...	ORPHA:2552
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:618523
Autoinflammatory Disease, Systemic, With Vasculitis	Atopic dermatitis, Increased circulating interleukin 6 concentration, Parotitis, Decreased circul...	OMIM:620376
Meningococcal Meningitis	Skin rash, Infectious encephalitis	ORPHA:33475
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Macrophage Activation Syndrome	Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki...	ORPHA:158061
Immunodeficiency 23	Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu...	OMIM:615816
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Bullous Pemphigoid	Eczematoid dermatitis, Anti-BP180 antibody positivity, Autoimmunity, Psoriasiform dermatitis, Ant...	ORPHA:703
Immunodeficiency 17	Abnormal B cell morphology, Eczematoid dermatitis, Chronic decreased circulating IgG2, Recurrent ...	OMIM:615607
Good Syndrome	Recurrent skin infections, Abnormal leukocyte morphology, Thrombocytopenia, Sinusitis, Anemia, De...	ORPHA:169105
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM, Allergic rhinitis, Eczematoid dermatitis	OMIM:618162
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,...	OMIM:618131
Whipple Disease	Infectious encephalitis, Myositis, Arthritis, Myocarditis, Pericarditis, Uveitis	ORPHA:3452
Pemphigus Erythematosus	Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Autoimmunity, Mala...	ORPHA:79480
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis	ORPHA:98827
Systemic Lupus Erythematosus	Nephritis, Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Antiphospho...	OMIM:152700
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Acute Disseminated Encephalomyelitis	Post-vaccination measles, Myelitis, Herpes simplex encephalitis, Severe parainfluenza infection, ...	ORPHA:83597
Leishmaniasis	Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant...	ORPHA:507
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Absence o...	ORPHA:79124
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infections, Pneumonia, Invasive fungal infection, Eczematoid dermatitis, Opportunistic ...	ORPHA:83471
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Recurrent pneumonia, Decreased circulating antibody level	OMIM:619750
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Symmetric polyarthritis, Synovitis, Arthritis, Rh...	ORPHA:85435
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Lymphopenia, Decreased circulating IgA level, Constrictive peri...	ORPHA:90363
Ataxia-Telangiectasia	Lymphopenia, Decreased circulating antibody level	ORPHA:100
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Increased circulating IgA level, Thrombocytosis, Anemia, Increased circu...	OMIM:615934
Neurocutaneous Melanocytosis	Infectious encephalitis	ORPHA:2481
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:508533
C3 Glomerulopathy	Paraproteinemia, Autoimmunity, Decreased circulating complement C4 concentration, Decreased circu...	ORPHA:329918
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Recurrent meningococc...	OMIM:610984
Immunodeficiency 59 And Hypoglycemia	Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Recurrent sk...	OMIM:233600
Netherton Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Skin rash, Erythroderma, Decreased circul...	ORPHA:634
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Abnormal lymphocyte physi...	ORPHA:99867
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po...	OMIM:258900
Zygomycosis	Nephritis, Unusual skin infection, Invasive fungal infection, Hepatitis, Brain abscess, Fasciitis...	ORPHA:73263
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Gm1 Gangliosidosis	Recurrent respiratory infections, Infectious encephalitis, Aspiration pneumonia	ORPHA:354
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Thrombocytopenia, Abnormality o...	ORPHA:381
Sézary Syndrome	Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Erythroderma, Splenomegaly	ORPHA:3162
Hemophagocytic Lymphohistiocytosis, Familial, 1	Meningitis, Infectious encephalitis	OMIM:267700
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Psoriasiform dermatitis, Interface hepatitis, Autoimmune hemolytic anemia, Leukocyto...	OMIM:243150
Igg4-Related Submandibular Gland Disease	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449432
Autoimmune Hepatitis	Increased circulating IgG level, Splenomegaly, Increased circulating antibody level	ORPHA:2137
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos...	ORPHA:158057
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul...	ORPHA:555905
Multiple Myeloma	Splenomegaly, Increased circulating IgA level, Anemia, Increased circulating IgG level, Decreased...	ORPHA:29073
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas...	OMIM:620005
Immunodeficiency 7	Recurrent otitis media, Autoimmunity, Autoimmune hemolytic anemia, Severe varicella zoster infect...	OMIM:615387
Poliomyelitis	Meningitis, Myelitis, Infectious encephalitis	ORPHA:2912
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Pneumocystosis	Interstitial pneumonitis, Increased circulating antibody level, Acute infectious pneumonia, Abnor...	ORPHA:723
Brucellosis	Pneumonia, Hip osteoarthritis, Arteritis, Sacroiliac arthritis, Osteomyelitis, Infectious encepha...	ORPHA:1304
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Decreased circulating antibody level, Splenomegaly	OMIM:605309
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr...	ORPHA:91139
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Skin rash, Splenomegaly, Increased circulating antibody level, Myositis, Arthritis, ...	OMIM:617591
Bronchiolitis Obliterans	Pneumonia, Autoimmunity, Bronchiectasis	ORPHA:1303
Common Variable Immunodeficiency	Pneumonia, Lymphopenia, Otitis media, Splenomegaly, Autoimmune thrombocytopenia, Chronic otitis m...	ORPHA:1572
Behçet Disease	Recurrent aphthous stomatitis, Infectious encephalitis, Increased inflammatory response, Myositis...	ORPHA:117
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Splenomegaly, Increased circulating antibody level, C...	OMIM:170100
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Anemia, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis	OMIM:226300
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Periodontitis, Recurrent otitis media, Impaired ADP-induced platelet aggrega...	OMIM:608233
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Autoimmunity, Recurren...	ORPHA:169090
Anal Fistula	Leukocytosis	ORPHA:228113
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Arthritis	ORPHA:761
Lassa Fever	Conjunctivitis, Increased circulating IgM level	ORPHA:99824
Rift Valley Fever	Severe viral infection, Hepatitis, Skin rash, Infectious encephalitis, Uveitis	ORPHA:319251
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, L...	OMIM:613179
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Macul...	ORPHA:319218
Japanese Encephalitis	Meningitis, Infectious encephalitis	ORPHA:79139
Immunodeficiency 40	Eosinophilic granuloma, Reduced antigen-specific T cell proliferation, Thrombocytopenia, Hepatome...	OMIM:616433
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Anemia	ORPHA:935
Whim Syndrome	Pneumonia, Recurrent pneumonia, Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphop...	ORPHA:51636
Hereditary Orotic Aciduria	Anemia, Splenomegaly, Impaired T cell function	ORPHA:30
Aplasia Cutis-Myopia Syndrome	Meningitis	ORPHA:1117
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ...	ORPHA:37042
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia	OMIM:616638
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Inflammation of the large intestine, Hyperbilirubinemia, Interface hepatitis, Sclerosing cholangi...	ORPHA:562639
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Decreased circulating antibody level, Erythroderma	OMIM:617425
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-po...	OMIM:304790
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Recurrent respiratory infections, Brain abscess, Anti-granulocyte-macrophage colony st...	OMIM:610910
Incontinentia Pigmenti	Infectious encephalitis, Keratitis, Skin rash, Uveitis	ORPHA:464
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227990
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis	ORPHA:319552
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Infectious encephalitis, Recurrent urinary tract infections	ORPHA:847
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level	ORPHA:1493
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Autoimmunity, Skin rash, Elevated circulating C-reactive protein concentration,...	ORPHA:85414
Chikungunya	Skin rash, Infectious encephalitis, Crusting erythematous dermatitis, Synovitis, Arthritis, Eryth...	ORPHA:324625
Obesity Due To Congenital Leptin Deficiency	Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Decreased T cell ...	ORPHA:66628
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Unusual skin infection, Infectious encephalitis, Pustule, Sinusitis	ORPHA:68
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level, Neutropenia...	OMIM:242900
Alexander Disease	Infectious encephalitis	ORPHA:58
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227982
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Adult Acute Respiratory Distress Syndrome	Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s...	ORPHA:70578
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent pneumonia, Severe B lymphocytopenia, Recurrent otitis media, Abnormal lymphocyte morpho...	ORPHA:293978
Sweet Syndrome	Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa...	ORPHA:3243
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Cholestasis, Pan...	OMIM:614576
Obesity Due To Leptin Receptor Gene Deficiency	Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Decreased T cell ...	ORPHA:179494
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Eczematoid dermatitis, Superficial dermal perivascular inflammatory inf...	ORPHA:83617
Tick-Borne Encephalitis	Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia, Increase...	ORPHA:297
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Skin rash, Splenomegaly, Increased...	OMIM:260920
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Allergic rhinitis, Atopic dermatitis, Eosinophilic microabscess formation in the esophagus, Esoph...	ORPHA:411696
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Eczematoid dermatitis, Recurrent otitis media, Lymphopenia, Pancytop...	OMIM:615688
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia	ORPHA:514
Igg4-Related Thyroid Disease	Increased circulating IgG4 level	ORPHA:64744
Hypocomplementemic Urticarial Vasculitis	Conjunctivitis, Autoimmunity, Episcleritis, Skin rash, Recurrent bacterial infections, Arthritis,...	ORPHA:36412
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Inflammation of the large intestine, Recurrent pneumonia, Skin rash, Colonic eosinophilia, Antinu...	OMIM:617718
Igg4-Related Pachymeningitis	Increased circulating IgG4 level, Reduced circulating complement concentration, Eosinophilia	ORPHA:449427
Primary Sjögren Syndrome	Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, I...	ORPHA:289390
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Nephritis, Leukopenia, Splenomegaly, Neutropeni...	OMIM:617303
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Decreased circulating IgA level, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:613385
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat...	ORPHA:542323
Alg12-Cdg	Recurrent pneumonia, Abnormal circulating IgM level, Complete or near-complete absence of specifi...	ORPHA:79324
Follicular Lymphoma	Meningitis	ORPHA:545
Celiac Disease, Susceptibility To, 1	Eczematoid dermatitis, Recurrent aphthous stomatitis, Decreased circulating IgA level, Macrocytic...	OMIM:212750
Cysticercosis	Iridocyclitis, Infectious encephalitis	ORPHA:1560
Fusariosis	Pneumonia, Unusual CNS infection, Invasive fungal infection, Keratitis, Brain abscess, Fasciitis,...	ORPHA:228119
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Leukopenia, Increased circulating IgA le...	ORPHA:2298
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Impaired T cell function	OMIM:201100
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Impai...	ORPHA:79329
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Eczematoid dermatitis, Panniculitis, Transient hypogammaglobulin...	ORPHA:3132
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Autoimmunity, Psor...	ORPHA:85436
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T...	ORPHA:911
Cinca Syndrome	Meningitis, Skin rash, Arthritis, Uveitis	OMIM:607115
Cowden Syndrome 1	Lymphopenia, Decreased circulating antibody level, Thyroiditis	OMIM:158350
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Rat-Bite Fever	Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan...	ORPHA:31205
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ...	ORPHA:1830
Mannosidosis, Alpha B, Lysosomal	Vacuolated lymphocytes, Decreased circulating antibody level, Splenomegaly	OMIM:248500
Igg4-Related Kidney Disease	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449395
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent...	OMIM:256040
Cystic Echinococcosis	Peritoneal abscess, Splenic cyst, Abscess, Increased circulating antibody level, Eosinophilia, Me...	ORPHA:400
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Coccidioidomycosis	Pneumonia, Folliculitis, Granuloma, Morbilliform rash, Osteomyelitis, Abnormality of the spleen, ...	ORPHA:228123
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Lipodystrophy, Congenital Generalized, Type 4	Decreased circulating IgA level, Splenomegaly	OMIM:613327
Melioidosis	Pneumonia, Unusual skin infection, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatiti...	ORPHA:31202
Diarrhea 10, Protein-Losing Enteropathy Type	Decreased circulating antibody level	OMIM:618183
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent otitis media, Autoimmune hemolytic anemia, Dysgammaglobulinemia, B...	OMIM:251260
Mixed Connective Tissue Disease	Autoimmunity, Skin rash, Myositis, Gastritis, Keratoconjunctivitis sicca, Arthritis, Myocarditis,...	ORPHA:809
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Infec...	ORPHA:293987
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Thrombocytopenia, Increased ci...	ORPHA:79078
Vici Syndrome	Cutaneous anergy, Decreased circulating IgG level, Lymphopenia, Leukopenia, Decreased proportion ...	OMIM:242840
Proteus-Like Syndrome	Abnormality of the parathyroid gland, Thymus hyperplasia, Splenomegaly, Polycystic ovaries	ORPHA:2969
Hereditary Chronic Pancreatitis	Leukocytosis	ORPHA:676
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Keratoconjunctivitis sicca, Erythroderma	OMIM:601675
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis	OMIM:212065
Gaucher Disease Type 1	Splenic infarction, Hypersplenism, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, In...	ORPHA:77259
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosi...	OMIM:618278
Arachnoiditis	Meningitis	ORPHA:137817
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Decreased circulating antibody level, Recurrent skin infections	ORPHA:79396
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Decreased circulating IgG level, Bone marrow hypocellularity, Hepatosplenomegaly, Leukopenia, Thr...	ORPHA:505248
Chronic Granulomatous Disease	Eczematoid dermatitis, Otitis media, Sinusitis, Inflammatory abnormality of the eye, Meningitis, ...	ORPHA:379
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Abnormality of humoral immunity, Inflammatory abnormality of t...	ORPHA:48435
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Primary Biliary Cholangitis	Hepatitis, Splenomegaly, Increased circulating IgA level, Gastrointestinal inflammation, Increase...	ORPHA:186
Alveolar Echinococcosis	Cutaneous abscess, Increased circulating antibody level, Eosinophilia, Abnormal spleen morphology...	ORPHA:284
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Pancytopenia, Abnormality of T cell physiology, Splenomegaly...	OMIM:181000
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level	ORPHA:449563
Dubowitz Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Acute lymphoblastic leukemia, A...	OMIM:223370
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Reduced circulating complement concentration, ...	ORPHA:470
Syndromic Diarrhea	Panhypogammaglobulinemia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Gastritis, Thrombo...	ORPHA:84064
Leukocyte Adhesion Deficiency Type Ii	Recurrent pneumonia, Keratitis, Recurrent otitis media, Microcytic anemia, Leukocytosis, Abnormal...	ORPHA:99843
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Abnormal pineal melatonin secretion, Cholecystiti...	ORPHA:69665
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcytic anemia, T lymphocytopenia	ORPHA:2959
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, Autoimmune thrombocytopenia, Neutropenia, T lymphocytopenia	OMIM:607944
Cinca Syndrome	Inflammatory abnormality of the eye, Meningitis, Retrobulbar optic neuritis, Uveitis	ORPHA:1451
Trichohepatoenteric Syndrome 1	Thrombocytosis, Decreased circulating antibody level, Splenomegaly, Increased mean platelet volume	OMIM:222470
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Neutrophilia, Increased c...	ORPHA:99827
Trichothiodystrophy	Eczematoid dermatitis, Increased mean corpuscular hemoglobin concentration, Panhypogammaglobuline...	ORPHA:33364
Gorham-Stout Disease	Meningitis, Osteomyelitis	ORPHA:73
Hennekam Syndrome	Lymphopenia, Decreased circulating antibody level, Erysipelas, Splenomegaly	ORPHA:2136
Cryptococcosis	Pneumonia, Systemic lupus erythematosus, Osteomyelitis, Autoimmunity, Prostatitis, Peritonitis, M...	ORPHA:1546
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia	ORPHA:77261
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Increased circulatin...	ORPHA:91500
Yellow Fever	Leukocytosis, Skin rash, Thrombocytopenia, Neutrophilia, Increased circulating interleukin 6 conc...	ORPHA:99829
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Cartilage-Hair Hypoplasia	Anemia, Decreased circulating antibody level, Neutropenia	ORPHA:175
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology	ORPHA:2237
Progeroid Short Stature With Pigmented Nevi	Allergic rhinitis, Allergic conjunctivitis, Impaired T cell function	OMIM:176690
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Anemia, Hepatosplenomegaly, Decreased circulating antibody level	ORPHA:247598
Velocardiofacial Syndrome	Impaired T cell function	OMIM:192430
Infection-Related Hemolytic Uremic Syndrome	Abnormal circulating chemokine concentration, Brain abscess, Leukocytosis, Pancreatitis, Thromboc...	ORPHA:544482
Primary Sclerosing Cholangitis	Hepatitis, Hepatosplenomegaly, Splenomegaly, Pancreatitis, Polyclonal elevation of IgM, Ulcerativ...	ORPHA:171
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia	OMIM:618223
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Seborrheic dermatitis, Thrombocytopenia, Anemia, ...	OMIM:274000
Congenital Syphilis	Pneumonia, Keratitis, Synovitis, Pancreatitis, Myocarditis, Meningitis, Rhinitis, Maculopapular e...	ORPHA:499009
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis, Autoimmunity,...	ORPHA:906
Granulomatosis With Polyangiitis	Autoimmunity, Otitis media, Skin rash, Increased inflammatory response, Prostatitis, Pancreatitis...	ORPHA:900
Adenohypophysitis	Hashimoto thyroiditis, Antinuclear antibody positivity, Chronic lymphocytic meningitis	ORPHA:95512
Gaucher Disease	Splenic infarction, Hepatitis, Osteomyelitis, Pancytopenia, Leukopenia, Splenomegaly, Increased c...	ORPHA:355
Acute Transverse Myelitis	Severe viral infection, Systemic lupus erythematosus, Invasive parasitic infection, Disseminated ...	ORPHA:139417
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Glomerulonephritis, Meningitis, Recurrent skin infections, Va...	ORPHA:2968
Familial Mediterranean Fever	Erysipelas, Crohn's disease, Orchitis, Peritonitis, Arthritis, Meningitis, Pericarditis	OMIM:249100
Panhypophysitis	Hashimoto thyroiditis, Antinuclear antibody positivity, Chronic lymphocytic meningitis	ORPHA:95513
Sepsis In Premature Infants	Invasive fungal infection, Severe infection, Enterocolitis, Meningitis, Disseminated viral infection	ORPHA:90051
Parenteral Nutrition-Associated Cholestasis	Splenomegaly, Abnormality of cytokine secretion	ORPHA:567983
Giant Cell Arteritis	Meningitis, Pericarditis, Arthritis, Recurrent pharyngitis	ORPHA:397
Viss Syndrome	Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level...	OMIM:619472
Familial Mediterranean Fever	Erysipelas, Skin rash, Orchitis, Peritonitis, Pancreatitis, Arthritis, Osteoarthritis, Meningitis...	ORPHA:342
Sheehan Syndrome	Hashimoto thyroiditis, Antinuclear antibody positivity, Chronic lymphocytic meningitis	ORPHA:91355
Digeorge Syndrome	Cholelithiasis, Parathyroid hypoplasia, Impaired T cell function, Hepatic steatosis, Splenomegaly...	OMIM:188400
Kawasaki Disease	Hepatitis, Conjunctivitis, Skin rash, Cholecystitis, Arthritis, Recurrent pharyngitis, Myocarditi...	ORPHA:2331
Pituitary Dermoid And Epidermoid Cysts	Meningitis	ORPHA:91351
Sponastrime Dysplasia	Recurrent pneumonia, Decreased circulating antibody level, Neutropenia	ORPHA:93357
22Q11.2 Deletion Syndrome	Cholelithiasis, Impaired T cell function, Splenomegaly, Cryptorchidism, Hypoplasia of the thymus,...	ORPHA:567
Trichinellosis	Conjunctivitis, Meningitis, Skin rash	ORPHA:863
Kikuchi-Fujimoto Disease	Malar rash, Skin rash, Pustule, Antinuclear antibody positivity, Myocarditis, Meningitis	ORPHA:50918
Plague	Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Enterocolitis, Carbun...	ORPHA:707
Proteus Syndrome	Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic ovaries, Testicular...	ORPHA:744
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Secretory IgA deficiency	ORPHA:500150
Hydranencephaly	Meningitis	ORPHA:2177
Leptospirosis	Uveitis, Hepatitis, Skin rash, Optic neuritis, Meningitis, Pericarditis	ORPHA:509
Classic Mycosis Fungoides	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:2584
Sacral Defect With Anterior Meningocele	Meningitis	OMIM:600145
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Recurrent otitis media, Asplenia, Decreased circulating antibody level	ORPHA:261537
Mowat-Wilson Syndrome	Recurrent otitis media, Asplenia, Decreased circulating antibody level, Enterocolitis	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Recurrent otitis media, Asplenia, Decreased circulating antibody level	ORPHA:261552

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cd28

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cd28.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Promiscuous Foxp3-cre activity reveals a differential requirement for CD28 in Foxp3⁺ and Foxp3⁻ T cells.	Immunology and cell biology (December 2014)	Cd28^{tm1a(EUCOMM)Hmgu}	PMC4407013
CD28 expression is required after T cell priming for helper T cell responses and protective immunity to infection.	eLife (October 2014)	Cd28^{tm1a(EUCOMM)Hmgu}	PMC4241536

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Cd28^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Cd28^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Cd28^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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