Autoimmune Disease |
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Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Complement Component 4, Partial Deficiency Of |
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Systemic lupus erythematosus |
OMIM:120790 |
Pemphigus Vulgaris, Familial |
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Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Immunodeficiency 15A |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Combined Immunodeficiency, X-Linked |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Immunodeficiency 18 |
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Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Tn Polyagglutination Syndrome |
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Autoimmunity |
OMIM:300622 |
Wiskott-Aldrich Syndrome 2 |
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Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Cd8 Deficiency, Familial |
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Absence of CD8-positive T cells |
OMIM:608957 |
Hashimoto Thyroiditis |
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Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
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T lymphocytopenia |
ORPHA:169095 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Systemic Lupus Erythematosus 16 |
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Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... |
OMIM:614420 |
Immunodeficiency 48 |
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Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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T lymphocytopenia |
OMIM:242870 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia |
DECIPHER:16 |
C1Q Deficiency 1 |
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Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Complement Component C1S Deficiency |
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Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:611926 |
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 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Immunodeficiency 97 With Autoinflammation |
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Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
Complement Component 2 Deficiency |
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Systemic lupus erythematosus |
OMIM:217000 |
Neutropenia, Severe Congenital, X-Linked |
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Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Immunodeficiency 13 |
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Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Eosinophilopenia |
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Autoimmunity |
OMIM:131430 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Immunodeficiency 17 |
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Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Progressive Multifocal Leukoencephalopathy |
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Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Immunodeficiency 102 |
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Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
Pemphigus Erythematosus |
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Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
Selective Igm Deficiency |
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Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... |
ORPHA:331235 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro... |
ORPHA:508533 |
Sjogren Syndrome |
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Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Aregenerative Anemia |
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Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
Pgm3-Cdg |
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Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Autoimmune Lymphoproliferative Syndrome |
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Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
Stevens-Johnson Syndrome |
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Anemia, Thrombocytopenia, Abnormality of neutrophils |
ORPHA:36426 |
Takayasu Arteritis |
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Anemia |
ORPHA:3287 |
Behçet Disease |
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Splenomegaly |
ORPHA:117 |
Reactive Arthritis |
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ORPHA:29207 |
Giant Cell Arteritis |
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ORPHA:397 |
Asthma, Susceptibility To |
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OMIM:600807 |
Psoriasis 1, Susceptibility To |
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OMIM:177900 |
Birdshot Chorioretinopathy |
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ORPHA:179 |
Spondyloarthropathy, Susceptibility To, 1 |
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OMIM:106300 |