Immunodeficiency 18 |
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Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Okt4 Epitope Deficiency |
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Abnormal T cell morphology |
OMIM:613949 |
Immunodeficiency 24 |
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Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Reticular Dysgenesis |
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Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... |
OMIM:267500 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Lymphoid System Deterioration, Progressive |
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Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Wiskott-Aldrich Syndrome 2 |
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Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... |
OMIM:614493 |
Lymphoma, Hodgkin, Classic |
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Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 40 |
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Lymphopenia |
OMIM:616433 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
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T lymphocytopenia |
ORPHA:169095 |
Combined Immunodeficiency, X-Linked |
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Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... |
OMIM:312863 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy |
OMIM:252250 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
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Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 15A |
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Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Immunodeficiency 14A, Autosomal Dominant |
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Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... |
OMIM:615513 |
Immunodeficiency 81 |
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Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Caspase 8 Deficiency |
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Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
Immunoglobulin A Deficiency 2 |
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Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Cernunnos-Xlf Deficiency |
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B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... |
ORPHA:169079 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia |
DECIPHER:16 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... |
OMIM:617241 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... |
OMIM:606843 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... |
OMIM:611926 |
Immunodeficiency 17 |
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Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia |
OMIM:615607 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... |
OMIM:300400 |
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 |
Griscelli Syndrome, Type 2 |
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Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Neutropenia, Increased circulating IgA level, Decreased lymphocyte proliferation in response to m... |
ORPHA:169154 |
Autoimmune Lymphoproliferative Syndrome |
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Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Immunodeficiency, Common Variable, 1 |
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B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropenia in presence... |
OMIM:607594 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, Lack of T cell function, Increased circulating IgE level, Lymphopenia, T lymph... |
ORPHA:277 |
Immunodeficiency 64 |
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Abnormal CD4:CD8 ratio, Defective T cell proliferation, Increased circulating IgA level, Decrease... |
OMIM:618534 |
Cd8 Deficiency, Familial |
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Absence of CD8-positive T cells |
OMIM:608957 |
Candidiasis, Familial, 1 |
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Cutaneous anergy |
OMIM:114580 |
Immunodeficiency 25 |
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Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... |
OMIM:610163 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... |
OMIM:600802 |
Immunodeficiency, Common Variable, 14 |
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Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... |
OMIM:617765 |
Immunodeficiency 85 And Autoimmunity |
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Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... |
OMIM:619510 |
Immunodeficiency 57 With Autoinflammation |
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B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria... |
OMIM:618108 |
Immunodeficiency 76 |
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B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia |
OMIM:601457 |
Immunodeficiency 13 |
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B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal B cell count, Decreased circulating IgA level, Decreased circulating IgG level, Decrease... |
ORPHA:331206 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... |
ORPHA:35078 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... |
OMIM:618986 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu... |
ORPHA:572 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Abnormal T cell morphology, Aplasia of the thymus, Reduced delayed hypersensitivity, Hepatospleno... |
OMIM:242700 |
Immunodeficiency, Common Variable, 2 |
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Impaired T cell function, Decreased circulating IgA level, Decreased circulating IgG level, Splen... |
OMIM:240500 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... |
OMIM:308230 |
Immunodeficiency 68 |
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B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
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Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Decreased lymphocyte proliferation in response to mitogen, Absence of CD8-positive T cells, Hepat... |
ORPHA:911 |
Wiskott-Aldrich Syndrome |
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Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Purine Nucleoside Phosphorylase Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Impaired T cell function, Decreased lymphoc... |
OMIM:613179 |
Orotic Aciduria |
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Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megalo... |
OMIM:258900 |
X-Linked Lymphoproliferative Disease |
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Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... |
ORPHA:2442 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Impaired T cell function, Splenomegaly |
OMIM:201100 |
Bare Lymphocyte Syndrome, Type Ii |
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Cutaneous anergy, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia |
OMIM:209920 |
Obesity Due To Congenital Leptin Deficiency |
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Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:179494 |
Progressive Multifocal Leukoencephalopathy |
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Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Schimke Immuno-Osseous Dysplasia |
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Decreased proportion of naive CD8 T cells, Neutropenia, Impaired T cell function, Bone marrow hyp... |
ORPHA:1830 |
Selective Igm Deficiency |
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Decreased specific antibody response to vaccination, Neutropenia in presence of anti-neutropil an... |
ORPHA:331235 |
Thymic Aplasia |
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Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Decreased lymphocyte pro... |
ORPHA:83471 |
Congenital Disorder Of Glycosylation, Type Iil |
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Impaired T cell function, Decreased specific anti-polysaccharide antibody level, Splenomegaly, Pa... |
OMIM:614576 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... |
OMIM:618213 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli... |
ORPHA:508533 |
Hereditary Orotic Aciduria |
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Impaired T cell function, Anemia, Splenomegaly |
ORPHA:30 |
Vici Syndrome |
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Decreased circulating IgG level, Cutaneous anergy, Decreased proportion of CD4-positive helper T ... |
OMIM:242840 |
Sarcoidosis, Susceptibility To, 1 |
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Pancytopenia, Increased circulating antibody level, Abnormality of T cell physiology, Splenomegaly |
OMIM:181000 |
22Q11.2 Deletion Syndrome |
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Thrombocytopenia, Hypoplasia of the thymus, Impaired T cell function, Splenomegaly |
ORPHA:567 |
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 |
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 |