Monocyte Chemotactic Disorder |
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Cutaneous anergy |
OMIM:252250 |
Coxsackievirus B3 Susceptibility |
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Recurrent viral infections |
OMIM:120050 |
Ciliary Discoordination Due To Random Ciliary Orientation |
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Recurrent infections |
OMIM:215518 |
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 30 |
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Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec... |
OMIM:308220 |
Immunodeficiency 35 |
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Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ... |
OMIM:611521 |
Immunodeficiency 24 |
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Defective T cell proliferation, Partial absence of specific antibody response to tetanus vaccine,... |
OMIM:615897 |
Immune Deficiency, Familial Variable |
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Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Agammaglobulinemia 8A, Autosomal Dominant |
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Recurrent infections, Agammaglobulinemia, Recurrent otitis media, Post-vaccination polio |
OMIM:616941 |
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 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
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Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Coccidioidomycosis, Sever... |
ORPHA:319552 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... |
OMIM:606843 |
Reticular Dysgenesis |
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Lack of T cell function, Impaired T cell function |
OMIM:267500 |
Caspase 8 Deficiency |
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Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... |
OMIM:607271 |
Immunodeficiency 11A |
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Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... |
OMIM:615206 |
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 |
Immunodeficiency, Common Variable, 2 |
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Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce... |
OMIM:240500 |
Griscelli Syndrome, Type 2 |
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Reduced delayed hypersensitivity |
OMIM:607624 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... |
OMIM:617241 |
Immunodeficiency, Common Variable, 1 |
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Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:607594 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased specific anti-polysaccharide antibody level, Decreased T cell activation, Decreased CD6... |
OMIM:300853 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase... |
OMIM:308230 |
Adult Acute Respiratory Distress Syndrome |
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Abnormality of tumor necrosis factor secretion, Sepsis, Abnormal circulating interleukin concentr... |
ORPHA:70578 |
Autoimmune Lymphoproliferative Syndrome |
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Reduced delayed hypersensitivity, Increased circulating IgG level, Increased circulating IgA leve... |
OMIM:601859 |
Acute Lung Injury |
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Increased circulating interleukin 6 concentration, Sepsis, Abnormality of tumor necrosis factor s... |
ORPHA:178320 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Increased circulating IgE level, Lack of T cell function |
ORPHA:277 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Reduced delayed hypersensitivity, Increased circulating IgG level, Increased circulating IgA leve... |
OMIM:603909 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Decreased lymphocyte proliferation in response to anti-CD3, Abnormality of B cell physiology, Cut... |
OMIM:600802 |
Bare Lymphocyte Syndrome, Type Ii |
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Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia |
OMIM:209920 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Decreased circulating antibody level, Lack of T cell function, Decreased lymphocyte proliferation... |
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, Partial IgA deficiency, Decreased circulating IgG level, Decreased circu... |
ORPHA:35078 |
Schimke Immuno-Osseous Dysplasia |
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Bone marrow hypocellularity, Abnormal lymphocyte physiology, Impaired T cell function |
ORPHA:1830 |
Purine Nucleoside Phosphorylase Deficiency |
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Impaired T cell function, Abnormality of B cell physiology, Decreased lymphocyte proliferation in... |
OMIM:613179 |
Orotic Aciduria |
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Impaired T cell function |
OMIM:258900 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Increased circulating IgG level, Defective T cell proliferation, Increased circulating IgE level,... |
OMIM:618213 |
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 |
Wiskott-Aldrich Syndrome |
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Decreased specific anti-polysaccharide antibody level, Abnormal delayed hypersensitivity skin tes... |
OMIM:301000 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response to mitogen |
ORPHA:83471 |
Parenteral Nutrition-Associated Cholestasis |
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Abnormality of cytokine secretion |
ORPHA:567983 |
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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Abnormality of T cell physiology, Increased circulating antibody level |
OMIM:181000 |
Progeroid Short Stature With Pigmented Nevi |
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Impaired T cell function |
OMIM:176690 |
22Q11.2 Deletion Syndrome |
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Impaired T cell function |
ORPHA:567 |
Digeorge Syndrome |
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Impaired T cell function |
OMIM:188400 |