Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency, Common Variable, 5 |
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Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
Immunodeficiency 84 |
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Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Combined Immunodeficiency, X-Linked |
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Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... |
OMIM:312863 |
Immunodeficiency 112 |
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Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
Agammaglobulinemia 8A, Autosomal Dominant |
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B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 105 |
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Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... |
OMIM:619924 |
Immunodeficiency 18 |
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Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Immunodeficiency 21 |
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Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Cernunnos-Xlf Deficiency |
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Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
Immunodeficiency 62 |
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Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran... |
OMIM:618459 |
Immunodeficiency 76 |
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Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia |
OMIM:619164 |
Immunodeficiency 52 |
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Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
Immunodeficiency 13 |
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Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
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 103, Susceptibility To Fungal Infections |
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Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
Agammaglobulinemia 3, Autosomal Recessive |
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Absent circulating B cells, Neutropenia, Abnormal T cell morphology |
OMIM:613501 |
Immunodeficiency, Common Variable, 13 |
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Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
Immunodeficiency, Common Variable, 3 |
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Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count |
OMIM:613493 |
Immunodeficiency 68 |
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Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia |
OMIM:612260 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Immunodeficiency 102 |
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Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... |
OMIM:301082 |
Agammaglobulinemia 2, Autosomal Recessive |
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Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Agammaglobulinemia 10, Autosomal Dominant |
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Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
Immunodeficiency 57 With Autoinflammation |
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Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia |
OMIM:618108 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B... |
OMIM:619705 |
Immunodeficiency, Common Variable, 1 |
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Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Neutr... |
OMIM:607594 |
Agammaglobulinemia 8B, Autosomal Recessive |
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B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... |
OMIM:619824 |
Immunodeficiency 67 |
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Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... |
OMIM:607676 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... |
OMIM:618986 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Lymphopenia, T lymphocytopenia, B lymphocytopenia |
ORPHA:277 |
Omenn Syndrome |
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Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... |
OMIM:603554 |
Immunodeficiency 109 With Lymphoproliferation |
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Pancytopenia, Absent circulating B cells, Splenomegaly |
OMIM:620282 |
Immunodeficiency 36 With Lymphoproliferation |
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Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... |
OMIM:616005 |
Agammaglobulinemia 6, Autosomal Recessive |
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Abnormal T cell morphology, B lymphocytopenia |
OMIM:612692 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... |
OMIM:619313 |
Immunodeficiency 70 |
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Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... |
OMIM:301078 |
Agammaglobulinemia 9, Autosomal Recessive |
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Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Leukodystrophy, Hypomyelinating, 24 |
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B lymphocytopenia |
OMIM:619851 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Decreased proportion of memory B cells, B lymphocytopenia, Thrombocytopenia, Increased CD4:CD8 ratio |
OMIM:618048 |
Immunodeficiency 92 |
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Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... |
OMIM:619652 |
Immunodeficiency 43 |
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Reduced natural killer cell count, Lung abscess, B lymphocytopenia |
OMIM:241600 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
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T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia |
OMIM:615966 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve... |
OMIM:102700 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia |
OMIM:620133 |
Activated Pi3K-Delta Syndrome |
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Splenomegaly, B lymphocytopenia |
ORPHA:397596 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t... |
OMIM:602450 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
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B lymphocytopenia |
OMIM:614069 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio... |
OMIM:606367 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Decreased proportion of class-switched m... |
OMIM:614700 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... |
ORPHA:508542 |
Autoinflammatory Disease, Systemic, X-Linked |
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Hepatosplenomegaly, Neutropenia, B lymphocytopenia |
OMIM:301081 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... |
ORPHA:35078 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis |
OMIM:616084 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia |
ORPHA:293978 |
Agammaglobulinemia 1, Autosomal Recessive |
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Rectal abscess, Neutropenia, B lymphocytopenia |
OMIM:601495 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Thrombocytopenia, Anemia |
OMIM:620005 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ... |
ORPHA:221139 |
Agammaglobulinemia, X-Linked |
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Anemia, T lymphocytopenia, Neutropenia, B lymphocytopenia |
OMIM:300755 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in p... |
ORPHA:391487 |
Alg12-Cdg |
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Thrombocytopenia, B lymphocytopenia |
ORPHA:79324 |
Nijmegen Breakage Syndrome |
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T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia |
OMIM:251260 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
Anemia, Sideroblastic, 4 |
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Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Immunodeficiency 82 With Systemic Inflammation |
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Reduced natural killer cell count, Decreased proportion of naive T cells, Splenomegaly, B lymphoc... |
OMIM:619381 |
Even-Plus Syndrome |
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OMIM:616854 |