Immunodeficiency 18 |
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Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Immunodeficiency 24 |
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Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy |
OMIM:252250 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Reticular Dysgenesis |
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Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Immunodeficiency 11A |
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Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Wiskott-Aldrich Syndrome 2 |
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Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
Caspase 8 Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Candidiasis, Familial, 1 |
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Cutaneous anergy |
OMIM:114580 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Immunodeficiency 81 |
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Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... |
OMIM:619924 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... |
OMIM:615513 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... |
OMIM:300853 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
Griscelli Syndrome, Type 2 |
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Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... |
OMIM:617006 |
Autoimmune Lymphoproliferative Syndrome |
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Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:601859 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Immunodeficiency, Common Variable, 1 |
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Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... |
OMIM:607594 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, B lymphocytopenia, L... |
ORPHA:277 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Immunodeficiency, Common Variable, 14 |
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Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
Immunodeficiency 25 |
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Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
Immunodeficiency 96 |
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Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
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Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Immunodeficiency, Common Variable, 2 |
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Impaired T cell function, Splenomegaly, Decreased circulating IgG level, Partial absence of speci... |
OMIM:240500 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho... |
OMIM:618986 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Pancytopenia, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, N... |
ORPHA:572 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... |
OMIM:608203 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... |
OMIM:308230 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, Increased circ... |
ORPHA:276 |
Orotic Aciduria |
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Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... |
OMIM:613179 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Obesity Due To Congenital Leptin Deficiency |
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Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:66628 |
Bare Lymphocyte Syndrome, Type Ii |
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Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia |
OMIM:209920 |
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 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
Schimke Immuno-Osseous Dysplasia |
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Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Decreased proportion ... |
ORPHA:1830 |
Hereditary Orotic Aciduria |
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Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... |
ORPHA:83471 |
Congenital Disorder Of Glycosylation, Type Iil |
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Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti... |
OMIM:614576 |
Vici Syndrome |
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Decreased circulating IgG level, Lymphopenia, Decreased T cell activation, Leukopenia, T lymphocy... |
OMIM:242840 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Splenomegaly, Impaired T cell function |
OMIM:201100 |
Immunodeficiency 58 |
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Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a... |
OMIM:618131 |
Sarcoidosis, Susceptibility To, 1 |
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Splenomegaly, Abnormality of T cell physiology, Increased circulating antibody level, Pancytopenia |
OMIM:181000 |
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 |
22Q11.2 Deletion Syndrome |
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Splenomegaly, Hypoplasia of the thymus, Impaired T cell function, Thrombocytopenia |
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, Splenomegaly, Anemia, Hypoplasia of the thymus, Thrombocytopenia |
OMIM:188400 |