Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 84 |
|
B-cell lymphoma, Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... |
OMIM:618459 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B-cell lymphoma, Lymphadenopathy, B lymphocytopenia, Colitis, T lympho... |
OMIM:619164 |
Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... |
OMIM:619707 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... |
OMIM:613500 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... |
OMIM:613501 |
Immunodeficiency 70 |
|
Verrucae, Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, C... |
OMIM:618969 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... |
ORPHA:169079 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level |
OMIM:616911 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... |
OMIM:612692 |
Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Absence of lymph node germinal center, Lack of T cell function, ... |
ORPHA:277 |
Immunodeficiency 102 |
|
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... |
OMIM:301082 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Reduced natur... |
OMIM:619281 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... |
ORPHA:70593 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG |
OMIM:613495 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... |
OMIM:616005 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Activated Pi3K-Delta Syndrome |
|
Recurrent tonsillitis, Lymphoma, Decreased circulating antibody level, Splenomegaly, Abnormal int... |
ORPHA:397596 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Reduced natural killer cell count, Partial absence of specif... |
OMIM:618108 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... |
OMIM:617514 |
Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM |
OMIM:606445 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Verrucae, Increased circulating IgE level, Squamous cell carcinoma of the vulva, Squamous cell ca... |
ORPHA:217390 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA... |
OMIM:102700 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro... |
OMIM:603554 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... |
OMIM:618986 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... |
OMIM:619705 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... |
OMIM:619313 |
Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... |
OMIM:613493 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... |
OMIM:150550 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... |
OMIM:614069 |
Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
Immunodeficiency 92 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619652 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... |
OMIM:602450 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... |
OMIM:241600 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... |
OMIM:618048 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... |
OMIM:301081 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... |
OMIM:607271 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... |
OMIM:301078 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... |
OMIM:619846 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... |
OMIM:613494 |
Immunodeficiency 68 |
|
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating IgA ... |
OMIM:300400 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... |
OMIM:312863 |
Immunodeficiency 50 |
|
Lymphopenia, Decreased circulating antibody level, Neutropenia |
OMIM:300988 |
Lymphoma, Hodgkin, Classic |
|
Hodgkin lymphoma, Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemag... |
OMIM:236000 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level, Lymphoproliferative disorder |
OMIM:242880 |
Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... |
OMIM:269840 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... |
OMIM:606367 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Protein-losing enteropathy, Decreased circulating IgA level, Aga... |
OMIM:613502 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... |
ORPHA:35078 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... |
ORPHA:859 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Lymphoma, Decreased CD4:CD8 ratio, Decreas... |
OMIM:300853 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Lymphom... |
OMIM:614700 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Cutaneous abs... |
OMIM:618944 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine, ... |
OMIM:615401 |
Immunodeficiency 104 |
|
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Lymphoma, Impaired T cell function, Decre... |
OMIM:240500 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopath... |
ORPHA:100024 |
Immunodeficiency 75 With Lymphoproliferation |
|
Lymphoma, Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memo... |
OMIM:619126 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Lymphoma, Polyclonal elevation of IgM, Impaired lymphocy... |
OMIM:153600 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Leukemia, Lymphoma, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating ant... |
OMIM:614470 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... |
OMIM:618982 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... |
OMIM:620430 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Verrucae, Intestinal lymphangiectasia, Splenomegaly, Partial abs... |
OMIM:620632 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Decreased circulating IgG level, Ex... |
OMIM:620005 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... |
OMIM:615214 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Lympho... |
OMIM:308240 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Decreased circulating IgG level, Pancytopenia, Decreased ... |
OMIM:618394 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T... |
ORPHA:169154 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane... |
OMIM:615285 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Panhypogammaglobulinemia, Agammaglobulinemia, B lymphocytopenia, Neutropenia, Rectal abscess, Dec... |
OMIM:601495 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal lymphocyte morphology, Decreased ... |
ORPHA:293978 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... |
OMIM:620133 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgE, Decreased circulating IgA level, Lymp... |
OMIM:300755 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
Neutropenia, Chronic Familial |
|
Neutropenia, Increased circulating antibody level |
OMIM:162700 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia |
OMIM:615966 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
Immunodeficiency 25 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... |
OMIM:616084 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... |
OMIM:615592 |
Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Incr... |
OMIM:615767 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot... |
OMIM:620210 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Lymphopenia, T lymphocytopenia, Verrucae |
OMIM:618309 |
Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Inflammation of the large intestine, Hypopituitarism, Increased ... |
ORPHA:98813 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Facial papilloma, Autoimmune hemolytic anemia, Lymphadenopathy, Neutrop... |
OMIM:619220 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... |
ORPHA:276 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level... |
OMIM:616100 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... |
OMIM:617241 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... |
OMIM:600802 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... |
ORPHA:2585 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with ... |
OMIM:617006 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymp... |
OMIM:613101 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level, Cryptorchidism |
OMIM:616910 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
Alpha-Heavy Chain Disease |
|
Lymphoma, Abnormal small intestine morphology, Splenomegaly, Dysgammaglobulinemia, Anemia, Lympha... |
ORPHA:100025 |
Kimura Disease |
|
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat... |
ORPHA:169160 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... |
OMIM:616098 |
Immunodeficiency 10 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly... |
OMIM:612783 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, Impaired Ig class switch r... |
OMIM:308230 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia |
OMIM:152800 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... |
ORPHA:221139 |
Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ... |
OMIM:601859 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Colonic eosinophilia, Eosinophilia, Decreased circulating total ... |
OMIM:617638 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Abnormal T cell count, Panhypogammaglobulinemia, Decreased response to growth hormone stimulation... |
OMIM:307200 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Enterocolitis, Decreased proportion of class-switched memory B c... |
OMIM:614878 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... |
OMIM:242700 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... |
ORPHA:508542 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Cryptorchidism, Biliary hyperpla... |
ORPHA:83617 |
Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... |
OMIM:619374 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... |
ORPHA:543 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgG level, Reduced delayed hypersensitivity, Chronic noninfectious lymphade... |
OMIM:603909 |
Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Ano... |
OMIM:619381 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... |
OMIM:614493 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Hodgkin lymphoma, Decreased proportion of class-switched memory B cells, Coombs-pos... |
OMIM:619375 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen |
OMIM:185070 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Oral leukoplak... |
OMIM:619767 |
Immunodeficiency 17 |
|
Abnormal B cell morphology, Anoperineal fistula, Decreased proportion of CD8-positive T cells, Ch... |
OMIM:615607 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... |
OMIM:619752 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Verrucae, Neutropenia, Decreased circulating antibody level |
OMIM:193670 |
Mirage Syndrome |
|
Lymphopenia, Leukopenia, Decreased testicular size, Cryptorchidism, Thrombocytopenia, Anemia, Mye... |
OMIM:617053 |
Immunodeficiency 96 |
|
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... |
OMIM:619774 |
Autoimmune Lymphoproliferative Syndrome |
|
Neoplasm of the skin, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased prop... |
ORPHA:3261 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Glioma, Lymphoma, Rhabdomyosarcoma, Autoimmune hemolytic anemia, Medulloblastoma, ... |
OMIM:251260 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Aplastic anemia, Hepatitis, Hemophagocytosis, Pancytopenia, ... |
OMIM:300635 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Lym... |
OMIM:615122 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Decreased lymphocyte proliferation in re... |
ORPHA:572 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Esophageal carcinoma, Hepatitis, Lymphopenia, Hepatosplenomegaly, Villous atrophy, Autoimmune hem... |
ORPHA:391487 |
Immunodeficiency 9 |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... |
OMIM:612782 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody... |
OMIM:618116 |
RosaĂŻ-Dorfman Disease |
|
Anemia, Dysgammaglobulinemia, Lymphadenopathy |
ORPHA:158014 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Micronodular cirrhosis, Hepatic steatosis, Decreased proportion of CD4-positive T cells, Hepatome... |
OMIM:301045 |
Reticular Dysgenesis |
|
Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Abnormality of neutrophils, Decreased circu... |
ORPHA:33355 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, D... |
ORPHA:90362 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Lymphom... |
ORPHA:436159 |
Gracile Bone Dysplasia |
|
Asplenia, Ankyloglossia, Hypoplastic spleen |
OMIM:602361 |
Immunodeficiency 46 |
|
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia, Steatorrhea |
OMIM:618752 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly... |
OMIM:618495 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Absence o... |
ORPHA:79124 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
SĂ©zary Syndrome |
|
Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglob... |
ORPHA:3162 |
Alg12-Cdg |
|
Intestinal malrotation, Abnormal circulating IgM level, Complete or near-complete absence of spec... |
ORPHA:79324 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology |
OMIM:215250 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinophilia, Anemia, Mon... |
OMIM:226990 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, Decreased circulating IgA level, Protruding tongue, Macrogloss... |
OMIM:242860 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Leishmaniasis |
|
Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant... |
ORPHA:507 |
Immunodeficiency 22 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... |
OMIM:615758 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... |
OMIM:617780 |
Hypoglossia With Situs Inversus |
|
Asplenia, High palate, Microglossia, Polysplenia |
OMIM:612776 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Immunodeficiency 40 |
|
Focal active colitis, Eosinophilic granuloma, Reduced antigen-specific T cell proliferation, Rect... |
OMIM:616433 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating interleukin 6 concentration, Cervical lymphadenopathy, Coombs-positive hemo... |
OMIM:614034 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea... |
OMIM:615190 |
Ciliary Dyskinesia, Primary, 53 |
|
Abdominal situs inversus, Hypoplastic spleen, Polysplenia |
OMIM:620642 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagitis, Decreased prop... |
ORPHA:443811 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Lymphoma, Lymphopenia, Decreas... |
OMIM:208900 |
Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227990 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ... |
OMIM:243700 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Decreased circulat... |
ORPHA:275 |
Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
Ataxia-Telangiectasia |
|
Aplasia/Hypoplasia of the thymus, Lymphopenia, Neoplasm, Polycystic ovaries, Abnormal testis morp... |
ORPHA:100 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Colonic atresia, Intestinal malrotation, Lymphopenia, Interface hepatitis, Autoimm... |
OMIM:243150 |
Immunodeficiency 61 |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level |
OMIM:300310 |
Griscelli Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen... |
ORPHA:381 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circulating antibody level, Auto... |
OMIM:615952 |
Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Decreased circu... |
OMIM:300972 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia... |
OMIM:275350 |
Tularemia |
|
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... |
ORPHA:3392 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227982 |
Common Variable Immunodeficiency |
|
Lymphoma, Lymphopenia, Abnormality of the liver, Decreased circulating antibody level, Splenomega... |
ORPHA:1572 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia... |
OMIM:618282 |
Pearson Syndrome |
|
Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Decreased response to growth horm... |
ORPHA:699 |
Dyskeratosis Congenita, Digenic |
|
Basal cell carcinoma, Decreased circulating IgG level, Oral leukoplakia, Squamous cell carcinoma ... |
OMIM:620040 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... |
ORPHA:101096 |
Selective Igm Deficiency |
|
Decreased proportion of transitional B cells, Lymphadenitis, Verrucae, Cutaneous abscess, Decreas... |
ORPHA:331235 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocyt... |
OMIM:616576 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Fibroma, High palate, Decreased circulati... |
OMIM:619750 |
Icf Syndrome |
|
Lymphopenia, Protruding tongue, Anemia, Macroglossia, Abnormality of neutrophils, Decreased circu... |
ORPHA:2268 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Decreased circulating antibody level, Splenomegaly, Hepatomegaly, High palate, Hydro... |
OMIM:605309 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia, Increased circulating antibody level |
ORPHA:99965 |
Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Inflammation of the large intestine, Decreased specific anti-poly... |
OMIM:301000 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Increased circulating interleukin 6 concentration, Hemophagocytosis, I... |
ORPHA:540 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... |
ORPHA:83471 |
Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Hypoplastic spleen, Cryptorchidism |
OMIM:601186 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopathy, Thrombo... |
OMIM:617591 |
Good Syndrome |
|
Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi... |
ORPHA:169105 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Panhypogammaglobulinemia, Villous atrophy, Biliary tract abnormality, Agammaglo... |
OMIM:209920 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatic fibrosis, Increased circulating interleukin 6 concentration, Parotitis, Cholestasis, Hepa... |
OMIM:620376 |
Igg4-Related Aortitis |
|
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... |
ORPHA:449400 |
Bloom Syndrome |
|
Neoplasm of the skin, Decreased circulating IgG level, Recurrent tonsillitis, Lymphoma, Malignant... |
ORPHA:125 |
Cowden Syndrome 1 |
|
Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Goiter, Meningioma, Lymphopenia, Fibro... |
OMIM:158350 |
Prolidase Deficiency |
|
Splenomegaly, Increased circulating antibody level, Prolonged neonatal jaundice, Anemia, Thromboc... |
OMIM:170100 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Glossitis, Decreased circulat... |
ORPHA:90045 |
Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Neoplasm of head and neck, ... |
ORPHA:99867 |
Bone Marrow Failure Syndrome 5 |
|
Oral leukoplakia, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Decreased circulating anti... |
OMIM:618165 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Anemia, Decreased... |
OMIM:612301 |
Gaucher Disease Type 1 |
|
Splenic infarction, Cholelithiasis, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukopenia, ... |
ORPHA:77259 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Volvulus, Lymphoma, Decreased circulating IgG1 level, Lymphopenia, Decreased... |
ORPHA:90363 |
Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Hepatic cysts, Spl... |
ORPHA:400 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Vici Syndrome |
|
Decreased circulating IgG level, Cutaneous anergy, Lymphopenia, Leukopenia, Decreased proportion ... |
OMIM:242840 |
Ebola Hemorrhagic Fever |
|
Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Acute... |
ORPHA:319218 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatitis, Pancytopenia, Hypersplenism, Portal hypertension, Splenomegaly, Decreased circulating ... |
OMIM:613385 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic... |
OMIM:269200 |
Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE lev... |
ORPHA:449432 |
Mogs-Cdg |
|
Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Decreased c... |
ORPHA:79330 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Myelodysplasia, Myeloid leukemia, Increased circulating anti... |
ORPHA:48104 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... |
OMIM:615415 |
Immunodeficiency 59 And Hypoglycemia |
|
Prolonged neonatal jaundice, Complete or near-complete absence of specific antibody response to u... |
OMIM:233600 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Decreased T cell ... |
ORPHA:66628 |
Mismatch Repair Cancer Syndrome 1 |
|
Basal cell carcinoma, Adenocarcinoma of the colon, T-cell lymphoma, Lymphoma, Oligodendroglioma, ... |
OMIM:276300 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Agammaglobulinemia, Aganglionic megacolon, Anemia, Abnormality of the pancreas |
ORPHA:935 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Aplasia of the... |
OMIM:618223 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Capil... |
ORPHA:508533 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal lymphangiectasia, Intestinal obstruction, Abnormal intestine morphology, Anemia, Iron ... |
OMIM:226300 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Decreased T cell ... |
ORPHA:179494 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Cryptorchidism, Thrombocytopenia |
OMIM:616638 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Viral hepatitis, Increased circulating IgG level, Splenomega... |
ORPHA:2137 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
Schimke Immunoosseous Dysplasia |
|
Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunog... |
OMIM:242900 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Bifid uvula, Microcytic anemia, Neoplasm, Hepatic steatosis, T lymphocytopenia, Neoplasm of the p... |
ORPHA:2959 |
Whim Syndrome |
|
Verrucae, Lymphadenitis, Cutaneous melanoma, Abnormal neutrophil morphology, Lymphopenia, Parotit... |
ORPHA:51636 |
Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Cleft palate, Cryptorchidism, Abdominal situs inversus |
OMIM:619123 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... |
OMIM:301074 |
Bloom Syndrome |
|
Decreased circulating IgG level, Lymphoma, Decreased circulating IgA level, Hepatic steatosis, Cr... |
OMIM:210900 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl... |
ORPHA:210122 |
Heterotaxy, Visceral, 2, Autosomal |
|
Intestinal malrotation, Asplenia, Abdominal situs inversus, Polysplenia |
OMIM:605376 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto... |
OMIM:615688 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Autoimmune thrombocytopenia |
OMIM:607944 |
Primary Ciliary Dyskinesia |
|
Intestinal malrotation, Asplenia, Polysplenia |
ORPHA:244 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent tonsil... |
ORPHA:183675 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Cholelithiasis, Chronic active hepatitis, Hypoparathyroidism, Asplenia |
OMIM:240300 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Decreased circulating IgA level, Ileus, Splenomegaly, Hepatic steatosis, Hepatomegaly, Pyloric st... |
OMIM:613327 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Decreased response to growth hormone stimulation test, Decreased... |
OMIM:615577 |
Multiple Myeloma |
|
Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG... |
ORPHA:29073 |
Celiac Disease, Susceptibility To, 1 |
|
Lymphoma, Decreased circulating IgA level, Macrocytic anemia, Iron deficiency anemia, Thrombocyto... |
OMIM:212750 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia |
OMIM:244400 |
Sweeney-Cox Syndrome |
|
Velopharyngeal insufficiency, Bilateral cryptorchidism, Median cleft palate, Anal atresia, Asplen... |
OMIM:617746 |
Right Atrial Isomerism |
|
Asplenia, Abdominal situs ambiguus, Polysplenia |
OMIM:208530 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Biliary cirrhosis, Xerostomia, Lymphoma, Chronic active hepatitis, Parotitis, ... |
ORPHA:289390 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic fibrosis, Decreased circulating IgG level, Decreased circulating IgA level, Villous atrop... |
OMIM:212065 |
Mosaic Trisomy 9 |
|
Intestinal malrotation, Cryptorchidism, Asplenia, High palate, Cleft palate, Abnormal liver lobul... |
ORPHA:99776 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, High palate, Decreased circulating antibody level, Decreased circulating IgA level |
OMIM:606056 |
Dubowitz Syndrome |
|
Decreased circulating IgG level, Aplastic anemia, Velopharyngeal insufficiency, Lymphoma, Decreas... |
OMIM:223370 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Intestinal malrotation, Asplenia, High palate |
OMIM:619657 |
Feingold Syndrome 1 |
|
Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop... |
OMIM:164280 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hemangioma, Intestinal polyp, Cryptorchidism, Decreased circulating IgA level |
ORPHA:457485 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:607143 |
Meckel Syndrome |
|
Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Cryptorchidism, Congenital h... |
ORPHA:564 |
Gaisböck Syndrome |
|
Increased red blood cell count, Peptic ulcer, Increased mean corpuscular hemoglobin concentration... |
ORPHA:90041 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... |
OMIM:602668 |
Riddle Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:420741 |
Heterotaxy, Visceral, 1, X-Linked |
|
Abdominal situs inversus, Polysplenia, Posteriorly placed anus, Biliary atresia, Hepatomegaly, As... |
OMIM:306955 |
Meckel Syndrome, Type 1 |
|
Malformation of the hepatic ductal plate, Accessory spleen, Intestinal malrotation, Splenomegaly,... |
OMIM:249000 |
Tetraamelia Syndrome 1 |
|
Asplenia, Anal atresia, Adrenal gland agenesis, Cleft palate |
OMIM:273395 |
Heterotaxy, Visceral, 5, Autosomal |
|
Abdominal situs inversus, Intestinal malrotation, Abdominal situs ambiguus, Asplenia, Duodenal at... |
OMIM:270100 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Annular pancreas, Meckel diverticulum, Intestinal malrotati... |
OMIM:265380 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM, High palate, Annular pancreas |
OMIM:618162 |
Pseudoaminopterin Syndrome |
|
Asplenia, High palate, Cryptorchidism |
ORPHA:221120 |
Monosomy 18Q |
|
Secondary growth hormone deficiency, Bilateral cryptorchidism, Decreased circulating IgA level, A... |
ORPHA:1600 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Protruding tongue, High palate,... |
OMIM:617062 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Decreased circulating IgA level, Decreased circulating total IgM, High, narro... |
ORPHA:369837 |
Viss Syndrome |
|
High, narrow palate, Bifid uvula, Broad uvula, Celiac disease, Intestinal malrotation, Exostosis ... |
OMIM:619472 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid uvula, Submucous cleft of soft and hard palate, Decreased circulating antibody level, Crypt... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Bifid uvula, Submucous cleft of soft and hard palate, Decreased circulating antibody level, Crypt... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid uvula, Submucous cleft of soft and hard palate, Decreased circulating antibody level, Crypt... |
ORPHA:261552 |
Grange Syndrome |
|
|
ORPHA:79094 |
Grange Syndrome |
|
|
OMIM:602531 |