Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia, Panhypogammaglobulinemia, Reduced natural killer cell count, Agammaglobulinemia |
OMIM:615214 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Defective T cell proliferation, R... |
OMIM:614493 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... |
OMIM:619924 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Agammaglobulinemia, Decreased lymphocyte proliferation in resp... |
OMIM:615592 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Reduced natural killer cell activity, Granulocytopenia |
OMIM:608898 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Decreased c... |
OMIM:618261 |
Immunodeficiency 20 |
|
Reduced natural killer cell count, Reduced natural killer cell activity |
OMIM:615707 |
Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level... |
OMIM:615897 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Immunodeficiency 19 |
|
Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia |
OMIM:615617 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... |
OMIM:300400 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Leukocytosis, Decreased circulating IgA level, Reduced natural k... |
OMIM:619281 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... |
OMIM:301082 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell funct... |
OMIM:267500 |
Immunodeficiency 57 With Autoinflammation |
|
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... |
OMIM:618108 |
Immunodeficiency 21 |
|
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... |
OMIM:614172 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Decreased circulating Ig... |
OMIM:619510 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM... |
OMIM:153600 |
Immunodeficiency 43 |
|
Lung abscess, Reduced natural killer cell count, Decreased circulating IgG level, B lymphocytopen... |
OMIM:241600 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Increased circulating antibody level |
OMIM:247800 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Increased ... |
OMIM:212050 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Abnormal natural killer cell physiology, Thrombocyt... |
OMIM:613101 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia |
OMIM:200900 |
Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased circulating t... |
OMIM:619802 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hemophagocytosis, Aplastic anemia, Reduced natural killer cell activity, Increased circulating Ig... |
OMIM:308240 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of B cell physiology, Abs... |
OMIM:600802 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgA level... |
OMIM:619752 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell activity, Reduced natural killer cell count, Thrombocytopenia... |
OMIM:616050 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... |
OMIM:619313 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cells, Decreased circulatin... |
ORPHA:276 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Decreased circulating total IgM, Increased circulating IgE level, Reduced natural killer cell cou... |
OMIM:243700 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatosplenomegaly, Absent isohemagglutinin level, Decreased proportion of memory B cells, Decrea... |
OMIM:615559 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Decreased circulat... |
ORPHA:859 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Neutropenia, Decreased circulating IgA level, Decreased c... |
OMIM:606843 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... |
ORPHA:35078 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Acute lymphoblastic leukemia, Neutropenia, Reduced ... |
ORPHA:158057 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatosplenomegaly, Decreased circulating total IgM, Abnormal B cell count, Decreased proportion ... |
ORPHA:331206 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... |
OMIM:616636 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... |
OMIM:619846 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Decreased circulating IgA level, Reduced natural killer cell count, Increased ... |
OMIM:242860 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Histiocytosis, Increased circulating IgM level, B lymphocytopenia, Hepatospleno... |
ORPHA:2442 |
Pgm3-Cdg |
|
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Leukopenia... |
ORPHA:443811 |
Immunodeficiency 68 |
|
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:612260 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Neutropenia, Decreased circulating IgA level, Decreased circulat... |
OMIM:613502 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, B lymphocytopenia, Pancytopenia |
OMIM:620133 |
Cernunnos-Xlf Deficiency |
|
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating antibody level, T... |
ORPHA:169079 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, B lymphocytopenia, T lymphocytopenia |
OMIM:615966 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Reduced natural killer cell activity, Reduced natura... |
OMIM:608233 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Reduced natural killer cell activity, Abnormal circulating IgG l... |
OMIM:300291 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased l... |
ORPHA:221139 |
Wiskott-Aldrich Syndrome |
|
Increased circulating IgA level, Decreased circulating total IgM, Impaired lymphocyte transformat... |
OMIM:301000 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Anemia, Reduced natural killer cell activity, Thrombocytopenia, Decreased circu... |
ORPHA:540 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Hepatosplenomegaly, Increased circulating antibody level, Decrea... |
ORPHA:169154 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Leukopenia, Hemophagocytosis, Anemia, Reduced natural killer cell activity, T... |
OMIM:603553 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Decreased circulating IgA ... |
OMIM:616005 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Hepatosplenomegaly, Leukopenia, Partial absence of specific antibody response to Haemophilus infl... |
OMIM:618986 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Lymp... |
OMIM:301074 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Abnormally low T cell receptor excision c... |
OMIM:619767 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Hepatosplenomegaly, Hemophagocytosis, Abnormal platelet function, Anemia,... |
ORPHA:167 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatosplenomegaly, Decreased proportion of memory B cells, Abnormal lymphocyte count, Anemia, Ab... |
ORPHA:79124 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgM, Anemia, Decreased circulating total IgA, Reduced natural killer ... |
OMIM:619381 |
Macrophage Activation Syndrome |
|
Hemophagocytosis, Anemia, Abnormal natural killer cell count, Thrombocytopenia, Splenomegaly, Neu... |
ORPHA:158061 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Anemia, Abnormal natural killer cell count, Thrombocytopenia, Pancytopenia, Spl... |
ORPHA:158048 |