Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
Immunodeficiency 105 |
|
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... |
OMIM:619924 |
Immunodeficiency 112 |
|
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology |
OMIM:615214 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Combined Immunodeficiency, X-Linked |
|
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... |
OMIM:312863 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Monocytosis |
OMIM:615592 |
Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia |
OMIM:618108 |
Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
Immunodeficiency 102 |
|
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... |
OMIM:301082 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... |
OMIM:619510 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... |
OMIM:619313 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
Immunodeficiency 68 |
|
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia |
OMIM:612260 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Reticular Dysgenesis |
|
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, Lung abscess, B lymphocytopenia |
OMIM:241600 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:616050 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... |
ORPHA:158057 |
Immunodeficiency 67 |
|
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... |
OMIM:607676 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells |
OMIM:618982 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia |
OMIM:620133 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia |
OMIM:619752 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... |
ORPHA:276 |
Pgm3-Cdg |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... |
OMIM:619846 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem... |
OMIM:620430 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w... |
OMIM:600802 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T ce... |
OMIM:243700 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... |
OMIM:301074 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... |
ORPHA:331206 |
Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Neutropenia |
OMIM:617827 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... |
ORPHA:35078 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... |
OMIM:608233 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:603909 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ... |
ORPHA:221139 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou... |
ORPHA:79124 |
Immunodeficiency 9 |
|
Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count |
OMIM:612782 |
Macrophage Activation Syndrome |
|
Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce... |
ORPHA:158061 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Increased T cell count, Increased B cell count |
ORPHA:98813 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... |
ORPHA:158048 |
Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Decreased proportion of naive T cells, Splenomegaly, B lymphoc... |
OMIM:619381 |
Autoimmune Lymphoproliferative Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel... |
ORPHA:3261 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Thrombocytopenia, Anemia,... |
OMIM:620376 |