Immunodeficiency, Common Variable, 5 |
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Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
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Abnormal B cell morphology |
OMIM:616911 |
Immunodeficiency 84 |
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Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Immunodeficiency 19 |
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T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Combined Immunodeficiency, X-Linked |
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Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... |
OMIM:312863 |
Agammaglobulinemia 8A, Autosomal Dominant |
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B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 15A |
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Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... |
OMIM:619924 |
Immunodeficiency 112 |
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Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... |
OMIM:620449 |
Immunodeficiency 18 |
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Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... |
OMIM:615615 |
Cernunnos-Xlf Deficiency |
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Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia |
ORPHA:169079 |
Immunodeficiency 76 |
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B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia |
OMIM:619164 |
Immunodeficiency 62 |
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B lymphocytopenia, Autoimmune thrombocytopenia, Increased proportion of transitional B cells, Dec... |
OMIM:618459 |
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 52 |
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Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... |
OMIM:617514 |
Immunodeficiency 21 |
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Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... |
OMIM:614172 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... |
OMIM:212050 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... |
ORPHA:231154 |
Agammaglobulinemia 3, Autosomal Recessive |
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Abnormal T cell morphology, Neutropenia, Absent circulating B cells |
OMIM:613501 |
Immunodeficiency 13 |
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B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... |
OMIM:615518 |
Immunodeficiency, Common Variable, 13 |
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B lymphocytopenia, Acute lymphoblastic leukemia, Pancytopenia |
OMIM:616873 |
Immunodeficiency, Common Variable, 3 |
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Abnormal T cell count, Abnormal B cell count, Decreased proportion of class-switched memory B cells |
OMIM:613493 |
Immunodeficiency 48 |
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Absence of CD8-positive T cells, Impaired lymphocyte transformation with phytohemagglutinin, Sple... |
OMIM:269840 |
Agammaglobulinemia 2, Autosomal Recessive |
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Abnormal T cell morphology, Absent circulating B cells |
OMIM:613500 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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T lymphocytopenia, Increased proportion of transitional B cells, Splenomegaly, Decreased proporti... |
OMIM:615513 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abscess, Abnormal CD... |
OMIM:150550 |
Agammaglobulinemia 10, Autosomal Dominant |
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Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Immunodeficiency 68 |
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B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
Immunodeficiency 102 |
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Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased propor... |
OMIM:301082 |
Immunodeficiency 14B, Autosomal Recessive |
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Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis |
OMIM:619281 |
Immunodeficiency 57 With Autoinflammation |
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Perianal abscess, Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:618108 |
Mu-Heavy Chain Disease |
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Anemia, Splenomegaly, Abnormal B cell count |
ORPHA:100024 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... |
OMIM:619824 |
Immunodeficiency, Common Variable, 1 |
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Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... |
OMIM:607594 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absent circulating B ce... |
OMIM:619705 |
Immunodeficiency 109 With Lymphoproliferation |
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Absent circulating B cells, Splenomegaly, Pancytopenia |
OMIM:620282 |
Agammaglobulinemia 6, Autosomal Recessive |
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Abnormal T cell morphology, B lymphocytopenia |
OMIM:612692 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, Lymphopenia, T lymphocytopenia |
ORPHA:277 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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B lymphocytopenia, Decreased proportion of memory B cells |
ORPHA:70593 |
Immunodeficiency 67 |
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Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... |
OMIM:607676 |
Omenn Syndrome |
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Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ... |
OMIM:603554 |
Leukodystrophy, Hypomyelinating, 24 |
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B lymphocytopenia |
OMIM:619851 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... |
OMIM:618986 |
Immunodeficiency 36 With Lymphoproliferation |
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Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... |
OMIM:616005 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... |
OMIM:619313 |
Immunodeficiency 70 |
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B lymphocytopenia, Decreased proportion of CD4-positive helper T cells |
OMIM:618969 |
Immunodeficiency, Common Variable, 6 |
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Autoimmune thrombocytopenia, Abnormal T cell count, Abnormal B cell count |
OMIM:613496 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Bone marrow hypocellularity, Ag... |
OMIM:301078 |
Agammaglobulinemia 9, Autosomal Recessive |
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Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Aplastic anemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Abnormal T cell count, Thrombocyt... |
OMIM:308240 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
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Autoimmune hemolytic anemia, Abnormal natural killer cell count, Abnormal T cell count, Abnormal ... |
OMIM:620430 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Decreased proportion of memory B cells, Thrombocytopenia, Increased CD4:CD8 ratio, B lymphocytopenia |
OMIM:618048 |
Immunodeficiency 92 |
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Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... |
OMIM:619652 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
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B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia |
OMIM:615966 |
Immunodeficiency 43 |
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Lung abscess, B lymphocytopenia, Reduced natural killer cell count |
OMIM:241600 |
Activated Pi3K-Delta Syndrome |
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B lymphocytopenia, Splenomegaly |
ORPHA:397596 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... |
ORPHA:331206 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Bone marrow hypocellularity, Reduced natural killer cell count, B lymphocytopenia, Pancytopenia |
OMIM:620133 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
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B lymphocytopenia |
OMIM:614069 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Lymph... |
OMIM:102700 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lymphopenia, Abnormally low T cell recept... |
OMIM:602450 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Autoimmune hemolytic anemia, B lymphocytopenia, T lymphocytopenia, Hepatosplenomegaly, Decreased ... |
OMIM:606367 |
Autoinflammatory Disease, Systemic, X-Linked |
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B lymphocytopenia, Hepatosplenomegaly, Neutropenia |
OMIM:301081 |
Immunodeficiency 17 |
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Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... |
OMIM:615607 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,... |
OMIM:614700 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt... |
ORPHA:508542 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Splenomegaly, Schistocytosis |
OMIM:616084 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,... |
ORPHA:35078 |
Agammaglobulinemia 1, Autosomal Recessive |
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Rectal abscess, B lymphocytopenia, Neutropenia |
OMIM:601495 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Severe B lymphocytopenia |
ORPHA:293978 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Anemia, Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Lymphopenia |
OMIM:620005 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer ce... |
ORPHA:221139 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
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Abnormal T cell count, Absent circulating B cells |
OMIM:307200 |
Ataxia-Telangiectasia |
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Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Decreased proportion o... |
OMIM:208900 |
Agammaglobulinemia, X-Linked |
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B lymphocytopenia, Neutropenia, Anemia, T lymphocytopenia |
OMIM:300755 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:391487 |
Nijmegen Breakage Syndrome |
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Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia, T lymphocytopenia |
OMIM:251260 |
Alg12-Cdg |
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B lymphocytopenia, Thrombocytopenia |
ORPHA:79324 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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B lymphocytopenia, Severe B lymphocytopenia |
ORPHA:83617 |
Immunodeficiency 82 With Systemic Inflammation |
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Anemia, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocytopenia, Splenomegaly... |
OMIM:619381 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Persistence of hemoglobin F |
OMIM:619769 |