Monocyte Chemotactic Disorder |
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Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Candidiasis, Familial, 1 |
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Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
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, Reduced antigen-specific T cell ... |
OMIM:615897 |
Immunodeficiency 66 |
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Pustule, Defective T cell proliferation, Recurrent skin infections |
OMIM:618847 |
Wiskott-Aldrich Syndrome 2 |
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Defective T cell proliferation, Eczema, Reduced natural killer cell activity |
OMIM:614493 |
Caspase 8 Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Reticular Dysgenesis |
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Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Immunodeficiency 11A |
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Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy |
OMIM:183350 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... |
OMIM:617241 |
Immunodeficiency 81 |
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Recurrent cutaneous abscess formation, Skin rash, Reduced natural killer cell activity, Reduced a... |
OMIM:619374 |
Griscelli Syndrome, Type 2 |
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Reduced delayed hypersensitivity |
OMIM:607624 |
Immunodeficiency, Common Variable, 2 |
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Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... |
OMIM:240500 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Inflammatory abnormality of the skin, Increased circulating IgE level, Lack of T cell function |
ORPHA:277 |
Immunodeficiency, Common Variable, 1 |
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Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... |
OMIM:607594 |
Immunodeficiency 96 |
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Eczema, Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating Ig... |
OMIM:619774 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... |
OMIM:308230 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... |
OMIM:300853 |
Autoimmune Lymphoproliferative Syndrome |
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Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Skin rash, Partial IgA deficiency, Pustule, Lack of T cell function, Decreased circulating total ... |
ORPHA:35078 |
Roifman Syndrome |
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Decreased T cell activation, Eczema, Decreased circulating antibody level |
ORPHA:353298 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:603909 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Skin rash, Lack of T cell function, Chronic mucocutaneous candidiasis, Decreased circulating anti... |
ORPHA:572 |
Bare Lymphocyte Syndrome, Type Ii |
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Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Chronic mucocutaneous candidiasis |
OMIM:209920 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Reduced delayed hypersensitivity, Eczematoid dermatitis, Pyoderma |
OMIM:242700 |
Immunodeficiency 58 |
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Recurrent cutaneous abscess formation, Eczema, Seborrheic dermatitis, Chronic mucocutaneous candi... |
OMIM:618131 |
Congenital Disorder Of Glycosylation, Type Iil |
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Peau d'orange, Decreased specific anti-polysaccharide antibody level, Impaired T cell function |
OMIM:614576 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant... |
OMIM:600802 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Perianal abscess, Increased circulating IgE level, Increased circulating IgG level, Defective T c... |
OMIM:618213 |
Purine Nucleoside Phosphorylase Deficiency |
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Abnormality of B cell physiology, Impaired T cell function, Decreased lymphocyte proliferation in... |
OMIM:613179 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Eczematoid dermatitis, Oligoclonal T cell expansion, Decreased lymphocyte proliferation in respon... |
ORPHA:83471 |
Schimke Immuno-Osseous Dysplasia |
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Bone marrow hypocellularity, Impaired T cell function, 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 |
Wiskott-Aldrich Syndrome |
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Eczema, Reduced natural killer cell activity, Increased circulating IgA level, Increased circulat... |
OMIM:301000 |
Orotic Aciduria |
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Impaired T cell function |
OMIM:258900 |
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 |
Vici Syndrome |
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Decreased circulating IgG level, Decreased T cell activation, Chronic mucocutaneous candidiasis, ... |
OMIM:242840 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology, Psoriasiform dermatitis |
ORPHA:2237 |
Sarcoidosis, Susceptibility To, 1 |
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Pericardial effusion, Pleural effusion, Increased circulating antibody level, Abnormality of T ce... |
OMIM:181000 |
Velocardiofacial Syndrome |
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Impaired T cell function |
OMIM:192430 |
22Q11.2 Deletion Syndrome |
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Acne, Impaired T cell function, Polyhydramnios, Seborrheic dermatitis |
ORPHA:567 |
Progeroid Short Stature With Pigmented Nevi |
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Impaired T cell function |
OMIM:176690 |
Digeorge Syndrome |
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Acne, Impaired T cell function, Seborrheic dermatitis |
OMIM:188400 |