Immunodeficiency 18 |
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Recurrent respiratory infections, Recurrent gastroenteritis, Recurrent otitis media, Decreased pr... |
OMIM:615615 |
Immunoglobulin A Deficiency 2 |
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Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... |
OMIM:609529 |
Tn Polyagglutination Syndrome |
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Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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T lymphocytopenia, Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Myelolymphatic Insufficiency |
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Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... |
OMIM:310350 |
Autoimmune Disease |
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Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Masp2 Deficiency |
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Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus |
OMIM:613791 |
Immunodeficiency, Common Variable, 5 |
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Antinuclear antibody positivity, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Pemphigus Vulgaris, Familial |
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Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Immunodeficiency 15A |
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Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... |
OMIM:618204 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
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Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... |
ORPHA:444463 |
C1Q Deficiency 1 |
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Autoimmunity, Systemic lupus erythematosus, Recurrent infections |
OMIM:613652 |
Cd8 Deficiency, Familial |
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Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... |
OMIM:608957 |
Cernunnos-Xlf Deficiency |
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Autoimmunity, Recurrent viral infections, Anemia, T lymphocytopenia, Recurrent bacterial infectio... |
ORPHA:169079 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Colitis, Aut... |
OMIM:617006 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
Agammaglobulinemia 3, Autosomal Recessive |
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Diarrhea, Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells,... |
OMIM:613501 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Autoimmunity, Recurrent opportunistic infections, Recurrent upper respiratory tract infections, R... |
ORPHA:277 |
Immunoglobulin A Deficiency 1 |
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Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Autoimmunity... |
OMIM:137100 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportuni... |
ORPHA:275 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmunity, Autoimmune thromb... |
OMIM:614470 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... |
OMIM:618495 |
Adult Idiopathic Neutropenia |
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Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Recu... |
ORPHA:2688 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Recurrent respiratory infections, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Autoim... |
ORPHA:572 |
Neutropenia, Severe Congenital, X-Linked |
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Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Eosinophilopenia |
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Decreased eosinophil count, Autoimmunity |
OMIM:131430 |
Immunodeficiency 36 With Lymphoproliferation |
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Autoimmunity, Splenomegaly, Recurrent upper respiratory tract infections, Chronic diarrhea, Chron... |
OMIM:616005 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Recurren... |
ORPHA:331206 |
Immunodeficiency 7 |
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Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Autoimmu... |
OMIM:615387 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Re... |
OMIM:615559 |
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 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... |
ORPHA:911 |
Immunodeficiency 81 |
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Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
X-Linked Severe Congenital Neutropenia |
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Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Immunodeficiency, Common Variable, 2 |
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Autoimmunity, Splenomegaly, Diarrhea, Recurrent pneumonia, Recurrent bacterial infections, Recurr... |
OMIM:240500 |
Purine Nucleoside Phosphorylase Deficiency |
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Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocy... |
ORPHA:760 |
Unclassified Myelodysplastic Syndrome |
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Acute myeloid leukemia, Leukocytosis, Autoimmunity |
ORPHA:98827 |
Lymphoproliferative Syndrome 1 |
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Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Autoimmune thrombocytopenia,... |
OMIM:613011 |
Selective Igm Deficiency |
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Recurrent staphylococcal infections, Sepsis, Recurrent cutaneous fungal infections, Decreased pro... |
ORPHA:331235 |
Gamma-Heavy Chain Disease |
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Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocy... |
ORPHA:100026 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... |
ORPHA:83471 |
Pemphigus Vulgaris |
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Recurrent cutaneous abscess formation, Autoimmunity, Recurrent infections |
ORPHA:704 |
Immunodeficiency 17 |
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Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... |
OMIM:615607 |
Pgm3-Cdg |
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Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopeni... |
ORPHA:443811 |
Immunodeficiency 22 |
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Abscess, Autoimmunity, Diarrhea, Recurrent upper respiratory tract infections, Protracted diarrhe... |
OMIM:615758 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
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Hemolytic anemia, Autoimmunity, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial... |
ORPHA:169090 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
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Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Recurrent upper respirato... |
OMIM:615952 |
Sjogren Syndrome |
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Xerostomia, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Autoimmune Polyendocrinopathy Type 4 |
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Macrocytic anemia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoim... |
ORPHA:227990 |
Autoimmune Polyendocrinopathy Type 3 |
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Macrocytic anemia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoim... |
ORPHA:227982 |