Immunodeficiency, Common Variable, 5 |
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Antinuclear antibody positivity, Abnormal T cell count, Chronic decreased circulating total IgG, ... |
OMIM:613495 |
Tn Polyagglutination Syndrome |
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Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
Immunoglobulin A Deficiency 2 |
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Abnormal lymphocyte morphology, Decreased circulating IgA level, Autoimmunity |
OMIM:609529 |
Autoimmune Disease |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Pemphigus Vulgaris, Familial |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Decreased specific pneumococcal antibody level, Autoimmunity, Impaired lymphocyte transformation ... |
OMIM:617006 |
Immunodeficiency 112 |
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Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Autoimmune hemolytic anemia, Splenomegal... |
ORPHA:444463 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Cernunnos-Xlf Deficiency |
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Lymphopenia, Autoimmunity, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decrea... |
ORPHA:169079 |
Combined Immunodeficiency, X-Linked |
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Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... |
OMIM:312863 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Pancytopenia, Autoimmunity, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Ne... |
OMIM:614470 |
Autoimmune Lymphoproliferative Syndrome |
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Antineutrophil antibody positivity, Platelet antibody positive, Autoimmune hemolytic anemia, Sple... |
OMIM:601859 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 18 |
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Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... |
OMIM:615615 |
Immunodeficiency, Common Variable, 4 |
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Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... |
OMIM:613494 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
Eosinophilopenia |
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Decreased eosinophil count, Autoimmunity |
OMIM:131430 |
Immunodeficiency, Common Variable, 3 |
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Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... |
OMIM:613493 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Increased circulating IgE level, Lymphopenia, Autoimmunity, Anti-thyroid peroxidase antibody posi... |
ORPHA:277 |
C1Q Deficiency 1 |
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Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Immunoglobulin A Deficiency 1 |
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Decreased circulating IgA level, Autoimmunity |
OMIM:137100 |
Immunodeficiency 25 |
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Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
Lymphoproliferative Syndrome 1 |
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Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... |
OMIM:613011 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
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Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
Macrophage Activation Syndrome |
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Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... |
ORPHA:158061 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... |
OMIM:619375 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Systemic lupus erythematosus, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia |
OMIM:616871 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD8-pos... |
ORPHA:169154 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Autoimmunity, Splen... |
OMIM:618398 |
Immunodeficiency 36 With Lymphoproliferation |
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Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmunity, Sple... |
OMIM:616005 |
Immunodeficiency 89 And Autoimmunity |
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Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Autoimmunity, Anemia of inadeq... |
OMIM:617780 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha... |
OMIM:308240 |
Unclassified Myelodysplastic Syndrome |
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Acute myeloid leukemia, Autoimmunity, Leukocytosis |
ORPHA:98827 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Decreased CD4:CD8 ratio, Autoimmunity, Autoimmune hemolytic anemia, Splenomegaly, Increased circu... |
OMIM:618495 |
Immunodeficiency 97 With Autoinflammation |
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Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
Diffuse Alveolar Hemorrhage |
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Antineutrophil antibody positivity, Elevated circulating creatinine concentration, Autoimmunity, ... |
ORPHA:90060 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... |
ORPHA:98813 |
Purine Nucleoside Phosphorylase Deficiency |
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Hypouricemia, Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Autoimmune hemolytic anemi... |
ORPHA:760 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Decreased circulating IgG level, Abnormal T cell count, Lymphopenia, Decreased circulating IgA le... |
ORPHA:331206 |
Immunodeficiency 67 |
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Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
Igg4-Related Aortitis |
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Increased circulating IgE level, Increased circulating IgG4 level, Autoimmunity, Hypereosinophili... |
ORPHA:449400 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Hashimoto thyroid... |
ORPHA:275 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Abnormal CD4:CD8 ratio, Panhypogammaglobulinemia, Pancytopenia, Autoimmunity, Decreased proportio... |
ORPHA:572 |
Mixed-Type Autoimmune Hemolytic Anemia |
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Autoimmunity, Systemic lupus erythematosus, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
Autoimmune Lymphoproliferative Syndrome |
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Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... |
ORPHA:3261 |
Immunodeficiency 22 |
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Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Decreased proport... |
OMIM:615758 |
Immunodeficiency 92 |
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Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619652 |
Subcorneal Pustular Dermatosis |
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Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... |
ORPHA:48377 |
Gamma-Heavy Chain Disease |
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Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Autoimmune hemolytic anemia, ... |
ORPHA:100026 |
Autoinflammatory Disease, Systemic, With Vasculitis |
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Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Hepatosplenom... |
OMIM:620376 |
Autoimmune Polyendocrinopathy Type 4 |
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Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthr... |
ORPHA:227990 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Decreased mean platelet volume, Antinuclear antibody positivity, Lymphocytosis, Thrombocytopenia,... |
OMIM:617718 |
Autoimmune Polyendocrinopathy Type 3 |
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Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthr... |
ORPHA:227982 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Decreased proportion of memory B cells, Reduced natural killer cell count, Increased circulating ... |
OMIM:301074 |
Nk-Cell Enteropathy |
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Increased T cell count |
ORPHA:263665 |
Sarcoidosis |
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Hypercalcemia, Leukopenia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemoly... |
ORPHA:797 |