Immunodeficiency 105 |
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Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Immunodeficiency 18 |
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Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Agammaglobulinemia 7, Autosomal Recessive |
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Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Immunodeficiency 21 |
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Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Lymphoproliferative Syndrome 3 |
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Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Immunodeficiency 15B |
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Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Immunodeficiency 20 |
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Reduced natural killer cell count |
OMIM:615707 |
Immunodeficiency 102 |
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Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence... |
OMIM:301082 |
Immunodeficiency 57 With Autoinflammation |
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Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia, Perianal abscess |
OMIM:618108 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Increased B cell count, Splenomegaly |
OMIM:616452 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 19 |
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Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology |
OMIM:615617 |
Immunodeficiency 85 And Autoimmunity |
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Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... |
OMIM:619510 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Immunodeficiency 97 With Autoinflammation |
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Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Immunodeficiency 50 |
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Neutropenia, Lymphopenia |
OMIM:300988 |
Immunodeficiency 68 |
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Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia |
OMIM:612260 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia |
OMIM:247800 |
Immunodeficiency 43 |
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Reduced natural killer cell count, Lung abscess, B lymphocytopenia |
OMIM:241600 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... |
ORPHA:158057 |
Reticular Dysgenesis |
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Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Autoinflammation With Infantile Enterocolitis |
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Reduced natural killer cell count, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly |
OMIM:616050 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly |
OMIM:618982 |
Immunodeficiency 54 |
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Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity, Pancytopenia |
OMIM:620133 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
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Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia |
OMIM:619752 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... |
ORPHA:276 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
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Reduced natural killer cell count, Eosinophilia, Decreased proportion of CD4-positive helper T cells |
OMIM:243700 |
Pgm3-Cdg |
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Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
Immunodeficiency 13 |
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Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... |
OMIM:619846 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, T lympho... |
OMIM:600802 |
X-Linked Lymphoproliferative Disease |
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Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
ORPHA:2442 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Immunodeficiency 55 |
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Neutropenia, Absent natural killer cells, Lymphopenia |
OMIM:617827 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... |
ORPHA:35078 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... |
ORPHA:331206 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Thrombocytosis, Decreased pro... |
OMIM:301074 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased B cell count, Autoimmune thrombocytopenia, Hepatosplenomegaly, Increased proportion aut... |
OMIM:615559 |
Hermansky-Pudlak Syndrome 2 |
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Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Abs... |
OMIM:608233 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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Abnormal T cell subset distribution, Reduced natural killer cell count, B lymphocytopenia, Decrea... |
ORPHA:221139 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:603909 |
Macrophage Activation Syndrome |
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Abnormal natural killer cell count, Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Sple... |
ORPHA:158061 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Abnormal natural killer cell count, Anemia, T lymphocytopenia, Pancytopenia, Hepatosplenomegaly, ... |
ORPHA:79124 |
Hemophagocytic Syndrome Associated With An Infection |
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Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Pancytopenia, He... |
ORPHA:158048 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
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Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia |
OMIM:615966 |
Immunodeficiency 82 With Systemic Inflammation |
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Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor... |
OMIM:619381 |
Autoimmune Lymphoproliferative Syndrome |
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Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... |
ORPHA:3261 |