Immunodeficiency 40 |
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Lymphopenia |
OMIM:616433 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
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T lymphocytopenia |
ORPHA:169095 |
Tn Polyagglutination Syndrome |
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Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Immunodeficiency 8 |
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Lymphopenia |
OMIM:615401 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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T lymphocytopenia |
OMIM:242870 |
Immunodeficiency 18 |
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Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Thrombocytopenic Purpura, Autoimmune |
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Thrombocytopenia, Platelet antibody positive |
OMIM:188030 |
Histiocytosis, Progressive Mucinous |
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Mucinous histiocytosis |
OMIM:142630 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Cernunnos-Xlf Deficiency |
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B lymphocytopenia, Autoimmunity, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
Neutropenia-Monocytopenia-Deafness Syndrome |
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Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia |
DECIPHER:16 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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B lymphocytopenia, Autoimmunity, Neutropenia in presence of anti-neutropil antibodies, Splenomega... |
ORPHA:231154 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Immunodeficiency 15A |
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Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Papular Xanthoma |
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Histiocytosis |
ORPHA:158008 |
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 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Immunodeficiency 19 |
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Lymphopenia |
OMIM:615617 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Autoimmunity, Systemic lupus erythematosus, Splenomegaly, Autoimmune thrombocytopenia, Lymphopeni... |
ORPHA:444463 |
Pulmonary Nodular Lymphoid Hyperplasia |
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Plasmacytosis, Autoimmune antibody positivity |
ORPHA:60026 |
Autoimmune Disease |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Immunoglobulin A Deficiency 2 |
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Autoimmunity, Abnormal lymphocyte morphology |
OMIM:609529 |
Immunodeficiency 17 |
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Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia |
OMIM:615607 |
Immunodeficiency 84 |
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B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Pemphigus Vulgaris, Familial |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Immunodeficiency 24 |
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Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... |
OMIM:615897 |
Agammaglobulinemia 8, Autosomal Dominant |
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B lymphocytopenia |
OMIM:616941 |
Benign Cephalic Histiocytosis |
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Histiocytosis |
ORPHA:157997 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Immunodeficiency 76 |
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B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
Eosinophilopenia |
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Autoimmunity, Decreased eosinophil count |
OMIM:131430 |
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 |
Lymphoid System Deterioration, Progressive |
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Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Anti-thyroid peroxidase antibody positivity, B lymphocytopenia, Autoimmunity, Lymphopenia, T lymp... |
ORPHA:277 |
Immunodeficiency 13 |
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B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmunity |
OMIM:617006 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
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T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
Immunodeficiency 50 |
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Neutropenia, Lymphopenia |
OMIM:300988 |
Immunodeficiency 7 |
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Autoimmunity, Hypereosinophilia |
OMIM:615387 |
Immunodeficiency 14A, Autosomal Dominant |
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T lymphocytopenia, Increased proportion of transitional B cells, Decreased proportion of class-sw... |
OMIM:615513 |
Wiskott-Aldrich Syndrome 2 |
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Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Autoimmune Hemolytic Anemia, Cold Type |
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Autoimmunity, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Leukopenia, Monocytosis, Refractory anemia, Systemic lupus erythematosus, Bone marrow hypocellula... |
OMIM:616871 |
Immunodeficiency 22 |
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Autoimmunity, Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
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Neutropenia, Lymphopenia |
OMIM:614868 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Cd8 Deficiency, Familial |
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Absence of CD8-positive T cells |
OMIM:608957 |
Reticular Dysgenesis |
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Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia |
OMIM:267500 |
Immunodeficiency, Common Variable, 13 |
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Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia |
OMIM:616873 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Autoimmunity, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Decreased proportion of class-switched memory B cells, Decreased proportion of marginal zone B ce... |
OMIM:619375 |
Sea-Blue Histiocyte Disease |
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Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Juvenile Arthritis |
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Thrombocytosis, Leukocytosis, Antinuclear antibody positivity |
OMIM:618795 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
Immunodeficiency 68 |
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B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Autoimmune Lymphoproliferative Syndrome |
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Platelet antibody positive, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulat... |
OMIM:601859 |
Unclassified Myelodysplastic Syndrome |
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Leukocytosis, Autoimmunity, Acute myeloid leukemia, Bone marrow hypocellularity |
ORPHA:98827 |
Immunodeficiency 21 |
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Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Immunodeficiency 25 |
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Antimitochondrial antibody positivity, Smooth muscle antibody positivity, Eosinophilia, T lymphoc... |
OMIM:610163 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
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Granulocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia |
OMIM:608898 |
Immunodeficiency 64 |
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Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Splenomegaly, Increased prop... |
OMIM:618534 |
Hashimoto Thyroiditis |
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Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Immunodeficiency 57 With Autoinflammation |
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B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia, Perianal abscess |
OMIM:618108 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... |
ORPHA:169154 |
Immunodeficiency 31C |
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Autoimmunity, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:614162 |
Immunodeficiency 81 |
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Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm... |
OMIM:150550 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
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Thrombocytopenia, Lymphopenia, Lupus anticoagulant, Hemolytic anemia, Antinuclear antibody positi... |
OMIM:616744 |
X-Linked Severe Congenital Neutropenia |
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Monocytopenia, Neutropenia |
ORPHA:86788 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Thrombocytosis, Macrocytic anemia, Autoimmunity, Megaloblastic anemia, Lymphopenia, Pancytopenia,... |
OMIM:617780 |
Immunodeficiency 14B, Autosomal Recessive |
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Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Increased B cell count, Platelet antibody positive, Elevated proportion of CD4-negative, CD8-nega... |
OMIM:603909 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... |
OMIM:618986 |
Systemic Lupus Erythematosus |
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Leukopenia, Systemic lupus erythematosus, Thrombocytopenia, Hemolytic anemia, Antinuclear antibod... |
OMIM:152700 |
C1Q Deficiency |
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Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Immunodeficiency 85 And Autoimmunity |
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Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... |
OMIM:619510 |
Acquired Partial Lipodystrophy |
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Autoimmunity, Lymphocytosis |
ORPHA:79087 |
Immunodeficiency 36 |
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Chronic lymphatic leukemia, Autoimmunity, Lymphopenia, Splenomegaly |
OMIM:616005 |
Immunodeficiency, Common Variable, 1 |
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B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen... |
OMIM:607594 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Increased B cell count, Splenomegaly |
OMIM:616452 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, D... |
OMIM:300853 |
Omenn Syndrome |
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B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphocytopenia, Thro... |
OMIM:603554 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased B cell count, Autoimmunity, Decreased proportion of class-switched memory B cells, Anti... |
OMIM:615559 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Abnormal CD4:CD8 ratio, Autoimmunity, Neutropenia, Neutropenia in presence of anti-neutropil anti... |
ORPHA:572 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Autoimmunity, Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis |
OMIM:618398 |
Immunodeficiency 70 |
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B lymphocytopenia, Decreased proportion of CD4-positive helper T cells |
OMIM:618969 |
Purine Nucleoside Phosphorylase Deficiency |
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Abnormal T cell morphology, Autoimmunity, Systemic lupus erythematosus, Decreased proportion of C... |
ORPHA:760 |
Mu-Heavy Chain Disease |
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Abnormal B cell count, Anemia, Splenomegaly |
ORPHA:100024 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... |
OMIM:300400 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Autoimmunity, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenome... |
ORPHA:331206 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Lymphoproliferative Syndrome 1 |
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Autoimmunity, Leukopenia, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion... |
OMIM:613011 |
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 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... |
OMIM:617241 |
Agammaglobulinemia 1, Autosomal Recessive |
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B lymphocytopenia, Neutropenia |
OMIM:601495 |
Pgm3-Cdg |
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Abnormal CD4:CD8 ratio, Autoimmunity, Neutropenia, Abnormal proportion of CD8-positive T cells, L... |
ORPHA:443811 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasia of the thymu... |
OMIM:102700 |
Diffuse Alveolar Hemorrhage |
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Leukocytosis, Autoimmunity, Antineutrophil antibody positivity, Anemia, Rheumatoid factor positiv... |
ORPHA:90060 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Macrophage Activation Syndrome |
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Autoimmunity, Neutropenia, Systemic lupus erythematosus, Anemia, Splenomegaly, Juvenile rheumatoi... |
ORPHA:158061 |
Gamma-Heavy Chain Disease |
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Autoimmunity, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, ... |
ORPHA:100026 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Hemolytic anemia, B lymphocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Hepato... |
OMIM:606367 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, T lympho... |
OMIM:600802 |
X-Linked Lymphoproliferative Disease |
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Increased B cell count, B lymphocytopenia, Autoimmunity, Increased T cell count, Bone marrow hypo... |
ORPHA:2442 |
Immunodeficiency 60 And Autoimmunity |
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Perinuclear antineutrophil antibody positivity, Splenomegaly, Decreased basophil count, Decreased... |
OMIM:618394 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Decreased proportion of CD3-positive T cells, Autoimmunity, Juvenile rheumatoid arthritis, Hashim... |
ORPHA:275 |
Immunodeficiency 92 |
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Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Autoimmune Hemolytic Anemia |
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Autoimmunity, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Autoimmunity, Neutropenia, Systemic lupus erythematosus, Autoimmune thrombocytopenia, Rheumatoid ... |
OMIM:607944 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune thrombocytopenia, ... |
ORPHA:911 |
Autoimmune Hemolytic Anemia, Warm Type |
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Chronic lymphatic leukemia, Autoimmunity, Systemic lupus erythematosus, Splenomegaly, Autoimmune ... |
ORPHA:90033 |
Burkitt Lymphoma |
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Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells |
ORPHA:543 |
Aregenerative Anemia |
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Neutropenia, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Erythroid ... |
ORPHA:101096 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural kil... |
ORPHA:35078 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
Mixed-Type Autoimmune Hemolytic Anemia |
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Autoimmunity, Systemic lupus erythematosus, Autoimmune hemolytic anemia |
ORPHA:90036 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Anemia, Hepatosplenomegaly, Decreased proportion of memory B cells, Pancytopenia, Thrombocytopeni... |
ORPHA:79124 |
Selective Igm Deficiency |
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Autoimmunity, Neutropenia in presence of anti-neutropil antibodies, Systemic lupus erythematosus,... |
ORPHA:331235 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
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Anti-thyroid peroxidase antibody positivity, Autoimmunity, Anti-glutamic acid decarboxylase antib... |
ORPHA:228426 |
Autoimmune Lymphoproliferative Syndrome |
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Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... |
ORPHA:3261 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Sp... |
OMIM:614700 |
Thymic Aplasia |
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Autoimmunity, Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Aplasia of... |
ORPHA:83471 |
Pemphigus Erythematosus |
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Autoimmunity, Systemic lupus erythematosus, Antinuclear antibody positivity, Anti-acetylcholine r... |
ORPHA:79480 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Lymphopenia, Ret... |
ORPHA:508542 |
Progressive Multifocal Leukoencephalopathy |
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Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Autoimmune Polyendocrinopathy Type 4 |
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Macrocytic anemia, Autoimmunity, Leukopenia, Aplasia/Hypoplasia of the spleen, Autoimmune thrombo... |
ORPHA:227990 |
Autoimmune Polyendocrinopathy Type 3 |
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Macrocytic anemia, Autoimmunity, Leukopenia, Aplasia/Hypoplasia of the spleen, Autoimmune thrombo... |
ORPHA:227982 |
Ataxia-Telangiectasia |
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Leukemia, Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Lymphope... |
OMIM:208900 |
Nijmegen Breakage Syndrome |
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B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:251260 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Severe B lymphocytopenia |
ORPHA:293978 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Sideroblastic anemia, Splenomegaly |
OMIM:616084 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Sjogren Syndrome |
|
Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Microcytic anemia |
ORPHA:2959 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Auto... |
ORPHA:391487 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Decreased proportion of C... |
ORPHA:508533 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
B lymphocytopenia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper... |
ORPHA:221139 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Absent circulating B cells |
OMIM:307200 |
Alg12-Cdg |
|
Thrombocytopenia, B lymphocytopenia |
ORPHA:79324 |
Immunodeficiency 82 With Systemic Inflammation |
|
B lymphocytopenia, Decreased proportion of naive T cells, Anemia, Splenomegaly, Reduced natural k... |
OMIM:619381 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
B lymphocytopenia, Severe B lymphocytopenia |
ORPHA:83617 |