Immunodeficiency 79 |
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Decreased proportion of CD4-positive T cells |
OMIM:619238 |
Immunodeficiency 15A |
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Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
Wiskott-Aldrich Syndrome 2 |
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Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... |
OMIM:614493 |
Combined Immunodeficiency, X-Linked |
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Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... |
OMIM:312863 |
Immunodeficiency 116 |
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Absence of CD8-positive T cells |
OMIM:608957 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
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T lymphocytopenia |
ORPHA:169095 |
Okt4 Epitope Deficiency |
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Abnormal T cell morphology |
OMIM:613949 |
Immunodeficiency 24 |
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Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
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T lymphocytopenia |
OMIM:242870 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
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Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia |
OMIM:608898 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Immunodeficiency 81 |
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Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy |
OMIM:252250 |
Immunodeficiency 48 |
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Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ... |
OMIM:269840 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia |
DECIPHER:16 |
Severe Combined Immunodeficiency, X-Linked |
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Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... |
OMIM:300400 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
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 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L... |
OMIM:619281 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:611926 |
Immunodeficiency, Common Variable, 5 |
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Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... |
OMIM:617241 |
Reticular Dysgenesis |
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Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Immunodeficiency 20 |
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Reduced natural killer cell activity, Reduced natural killer cell count |
OMIM:615707 |
Immunodeficiency 19 |
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Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Thro... |
OMIM:613101 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... |
OMIM:308240 |
Immunodeficiency 18 |
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Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
Immunodeficiency 11A |
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Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T... |
ORPHA:169154 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
Neutropenia, Severe Congenital, X-Linked |
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Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Immunodeficiency 13 |
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Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Caspase 8 Deficiency |
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Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... |
OMIM:607271 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Candidiasis, Familial, 1 |
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Cutaneous anergy |
OMIM:114580 |
Immunodeficiency 76 |
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Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia |
OMIM:619164 |
Immunodeficiency 112 |
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Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
Immunodeficiency 17 |
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Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto... |
OMIM:615607 |
Immunodeficiency 52 |
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Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
Autoinflammation With Infantile Enterocolitis |
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Reduced natural killer cell count, Reduced natural killer cell activity, Pancytopenia, Splenomega... |
OMIM:616050 |
Cernunnos-Xlf Deficiency |
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Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio |
OMIM:617006 |
Immunodeficiency 105 |
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Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... |
OMIM:619924 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... |
OMIM:615513 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... |
ORPHA:911 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... |
OMIM:619846 |
Progressive Multifocal Leukoencephalopathy |
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Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... |
OMIM:300853 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
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Increased proportion of exhausted T cells |
OMIM:618307 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... |
OMIM:300291 |
Immunodeficiency 102 |
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Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... |
OMIM:301082 |
Immunodeficiency, Common Variable, 1 |
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Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
Immunodeficiency 68 |
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Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia |
OMIM:612260 |
Autoimmune Lymphoproliferative Syndrome |
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Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... |
OMIM:601859 |
Immunodeficiency 70 |
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Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... |
OMIM:618969 |
Wiskott-Aldrich Syndrome |
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Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ... |
OMIM:301000 |
Immunodeficiency 57 With Autoinflammation |
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Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia |
OMIM:618108 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
Immunodeficiency, Common Variable, 2 |
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Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:240500 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Lack of T cell function, Increased circulating IgE level, Lymphopenia, B lymphocytopenia, T lymph... |
ORPHA:277 |
Familial Hemophagocytic Lymphohistiocytosis |
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Hemophagocytosis, Reduced natural killer cell activity, Splenomegaly, Thrombocytopenia, Neutropen... |
ORPHA:540 |
Immunodeficiency 85 And Autoimmunity |
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Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
Hermansky-Pudlak Syndrome 2 |
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Reduced natural killer cell count, Enlarged platelet dense granules, Reduced natural killer cell ... |
OMIM:608233 |
Burkitt Lymphoma |
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Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells |
ORPHA:543 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hemophagocytosis, Reduced natural killer cell activity, Leukopenia, Hepatosplenomegaly, Pancytope... |
OMIM:603553 |
Selective Igm Deficiency |
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Decreased proportion of transitional B cells, Cutaneous abscess, Decreased proportion of CD8-posi... |
ORPHA:331235 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... |
OMIM:600802 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... |
OMIM:603909 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... |
OMIM:242700 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... |
OMIM:619313 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... |
OMIM:618986 |
Immunodeficiency 96 |
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Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... |
OMIM:619774 |
Aregenerative Anemia |
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Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... |
ORPHA:101096 |
Lymphoproliferative Syndrome 1 |
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Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:613011 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio... |
ORPHA:508533 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... |
ORPHA:276 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Panhypogammagl... |
ORPHA:572 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... |
OMIM:308230 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... |
ORPHA:35078 |
Pgm3-Cdg |
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Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
Immunodeficiency 22 |
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Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... |
OMIM:615758 |
Orotic Aciduria |
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Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... |
OMIM:258900 |
Purine Nucleoside Phosphorylase Deficiency |
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Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... |
OMIM:613179 |
Autoimmune Lymphoproliferative Syndrome |
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Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... |
OMIM:618213 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... |
ORPHA:83471 |
Hereditary Orotic Aciduria |
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Anemia, Splenomegaly, Impaired T cell function |
ORPHA:30 |
Bloom Syndrome |
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Abscess, Decreased proportion of CD4-positive T cells, Abnormal proportion of CD8-positive T cell... |
ORPHA:125 |
Sarcoidosis, Susceptibility To, 1 |
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Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody level |
OMIM:181000 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology |
ORPHA:2237 |