Monocyte Chemotactic Disorder |
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Cutaneous anergy |
OMIM:252250 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Pa Polymorphism Of Alpha-2-Globulin |
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Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency 24 |
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Decreased circulating IgG level, Defective T cell proliferation, Decreased circulating IgG2 level... |
OMIM:615897 |
Candidiasis, Familial, 1 |
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Cutaneous anergy |
OMIM:114580 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
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Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... |
OMIM:606843 |
Reticular Dysgenesis |
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Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Immunodeficiency 11 |
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Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
Caspase 8 Deficiency |
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Decreased T cell activation, Decreased circulating total IgM, Complete or near-complete absence o... |
OMIM:607271 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy |
OMIM:183350 |
Wiskott-Aldrich Syndrome 2 |
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Defective T cell proliferation, Reduced natural killer cell activity |
OMIM:614493 |
Griscelli Syndrome, Type 2 |
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Reduced delayed hypersensitivity |
OMIM:607624 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Increased circulating IgE level, Reduced antigen-specific T cell proliferation, Increased circula... |
OMIM:617241 |
Immunodeficiency, Common Variable, 2 |
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Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce... |
OMIM:240500 |
Immunodeficiency, Common Variable, 1 |
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Decreased circulating IgA level, Impaired T cell function, Decreased circulating total IgM, Decre... |
OMIM:607594 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased CD69 upregulation upon TCR activation, Decreased specific anti-polysaccharide antibody ... |
OMIM:300853 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Decreased T cell activation, Decreased circulating IgE, Impaired Ig class switch recombination, I... |
OMIM:308230 |
Autoimmune Lymphoproliferative Syndrome |
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Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit... |
OMIM:601859 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Increased circulating IgE level, Lack of T cell function |
ORPHA:277 |
Immunodeficiency 96 |
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Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating total IgM,... |
OMIM:619774 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Cutaneous anergy, Abnormality of B cell physiology, Panhypogammaglobulinemia, Decreased lymphocyt... |
OMIM:600802 |
Roifman Syndrome |
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Decreased T cell activation, Decreased circulating antibody level |
ORPHA:353298 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit... |
OMIM:603909 |
Bare Lymphocyte Syndrome, Type Ii |
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Cutaneous anergy, Agammaglobulinemia, Panhypogammaglobulinemia |
OMIM:209920 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Panhypogammaglobulinemia, Lack of T cell function, Decreased lymphocyte proliferation in response... |
ORPHA:572 |
Congenital Disorder Of Glycosylation, Type Iil |
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Decreased specific anti-polysaccharide antibody level, Impaired T cell function |
OMIM:614576 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... |
ORPHA:35078 |
Purine Nucleoside Phosphorylase Deficiency |
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Abnormality of B cell physiology, Impaired T cell function, Decreased lymphocyte proliferation in... |
OMIM:613179 |
Schimke Immuno-Osseous Dysplasia |
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Impaired T cell function, Bone marrow hypocellularity, Abnormal lymphocyte physiology |
ORPHA:1830 |
Obesity Due To Congenital Leptin Deficiency |
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Decreased T cell activation |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Decreased T cell activation |
ORPHA:179494 |
Orotic Aciduria |
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Impaired T cell function |
OMIM:258900 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Defective T cell proliferation, Increased circulating IgG level, Increased circulating IgE level,... |
OMIM:618213 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Reduced delayed hypersensitivity |
OMIM:242700 |
Hereditary Orotic Aciduria |
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Impaired T cell function |
ORPHA:30 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Impaired T cell function |
OMIM:201100 |
Immunodeficiency 58 |
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Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu... |
OMIM:618131 |
Wiskott-Aldrich Syndrome |
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Decreased circulating total IgM, Reduced natural killer cell activity, Abnormal delayed hypersens... |
OMIM:301000 |
Vici Syndrome |
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Cutaneous anergy, Decreased circulating IgG2 level, Decreased T cell activation, Decreased circul... |
OMIM:242840 |
Thymic Aplasia |
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Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response to mitogen |
ORPHA:83471 |
Velocardiofacial Syndrome |
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Impaired T cell function |
OMIM:192430 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology |
ORPHA:2237 |
Sarcoidosis, Susceptibility To, 1 |
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Increased circulating antibody level, Abnormality of T cell physiology |
OMIM:181000 |
22Q11.2 Deletion Syndrome |
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Impaired T cell function |
ORPHA:567 |
Progeroid Short Stature With Pigmented Nevi |
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Impaired T cell function |
OMIM:176690 |
Digeorge Syndrome |
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Impaired T cell function |
OMIM:188400 |