Tn Polyagglutination Syndrome |
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Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
Autoimmune Disease |
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Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Immunoglobulin A Deficiency 2 |
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Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level |
OMIM:609529 |
Pemphigus Vulgaris, Familial |
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Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... |
OMIM:617006 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... |
ORPHA:444463 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Cernunnos-Xlf Deficiency |
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Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho... |
ORPHA:169079 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... |
OMIM:614470 |
Autoimmune Lymphoproliferative Syndrome |
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Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo... |
OMIM:601859 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
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 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
Eosinophilopenia |
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Decreased eosinophil count, Autoimmunity |
OMIM:131430 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Autoimmunity, Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, T lym... |
ORPHA:277 |
Immunodeficiency 25 |
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Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Macrophage Activation Syndrome |
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Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Autoimmunity, Elevated c... |
ORPHA:158061 |
Lymphoproliferative Syndrome 1 |
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Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Immunoglobulin A Deficiency 1 |
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Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
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 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Pancytopenia, Hypertriglyceridemia, Autoimmunity, Splenomegaly, Increased circulating ferritin co... |
OMIM:618398 |
Immunodeficiency 36 With Lymphoproliferation |
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Lymphopenia, Autoimmunity, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM le... |
OMIM:616005 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... |
OMIM:617780 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Increased circulating IgG level, Decreas... |
OMIM:618495 |
Unclassified Myelodysplastic Syndrome |
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Acute myeloid leukemia, Leukocytosis, Autoimmunity |
ORPHA:98827 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Autoimmunity, Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE le... |
ORPHA:98813 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Hypouricemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T ... |
ORPHA:760 |
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 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... |
OMIM:308240 |
Diffuse Alveolar Hemorrhage |
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Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Antinuclear antib... |
ORPHA:90060 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Autoimmunity, Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Juve... |
ORPHA:275 |
Igg4-Related Aortitis |
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Autoimmunity, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra... |
ORPHA:449400 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Abnormal CD4:CD8 ratio, Autoimmune throm... |
ORPHA:572 |
Mixed-Type Autoimmune Hemolytic Anemia |
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Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, Increased total bilirubin |
ORPHA:90036 |
Autoimmune Lymphoproliferative Syndrome |
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Rheumatoid factor positive, Increased circulating IgG level, Lymphocytosis, Increased B cell coun... |
ORPHA:3261 |
Immunodeficiency 22 |
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Abscess, Autoimmunity, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating I... |
OMIM:615758 |
Immunodeficiency 92 |
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Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Subcorneal Pustular Dermatosis |
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Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... |
ORPHA:48377 |
Gamma-Heavy Chain Disease |
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Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Elevated circulating C-reactive protein concentration, Antinuclear antibody positivity, Decreased... |
OMIM:617718 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:301074 |
Nk-Cell Enteropathy |
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Increased T cell count |
ORPHA:263665 |
Sarcoidosis |
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Hemolytic anemia, Hypercalcemia, Eosinophilia, Thrombocytopenia, Increased T cell count, Leukopen... |
ORPHA:797 |