| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... |
OMIM:618982 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... |
OMIM:615513 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis |
ORPHA:60026 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... |
OMIM:617514 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... |
OMIM:619846 |
| Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells |
OMIM:619238 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgE level, Reduced delayed hypersensitivity, Decreased proportion of CD8-po... |
OMIM:617241 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... |
OMIM:269840 |
| 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 |
| Immunodeficiency 104 |
|
T lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... |
OMIM:300400 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... |
OMIM:619126 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
| Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... |
OMIM:312863 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph... |
ORPHA:169154 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... |
OMIM:300853 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Lack of T cell function, Increased circulating IgE level, ... |
ORPHA:277 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... |
OMIM:607271 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune thrombocytope... |
ORPHA:444463 |
| Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... |
OMIM:614493 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Reduced delayed hypersensitivity, Increased B cell count, Chronic noninfectious lymphadenopathy, ... |
OMIM:603909 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count |
OMIM:613495 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... |
OMIM:619313 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Lymphadenopathy, Anemia |
ORPHA:100024 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Increased circulating IgE level, Hypopituitarism, Decreased circ... |
ORPHA:98813 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Lymphoc... |
OMIM:614470 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Abnormal lymph node mor... |
ORPHA:911 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Burkitt Lymphoma |
|
Abnormality of the ovary, Abnormality of the spleen, Decreased proportion of CD4-positive helper ... |
ORPHA:543 |
| Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... |
OMIM:602450 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:240500 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... |
OMIM:619220 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
| Immunodeficiency 116 |
|
Absence of CD8-positive T cells |
OMIM:608957 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... |
OMIM:618986 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... |
OMIM:150550 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Increased ci... |
OMIM:618495 |
| Immunodeficiency 68 |
|
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... |
OMIM:615615 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
| 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 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ... |
OMIM:603554 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... |
OMIM:308240 |
| Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Splenomegaly, Partial absence of sp... |
OMIM:620632 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... |
ORPHA:276 |
| Kimura Disease |
|
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
| Immunodeficiency 50 |
|
Lymphopenia, Decreased circulating antibody level, Neutropenia |
OMIM:300988 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ... |
OMIM:601859 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy |
OMIM:616126 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... |
ORPHA:169079 |
| Immunodeficiency 9 |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... |
OMIM:612782 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Activated Pi3K-Delta Syndrome |
|
Recurrent tonsillitis, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, B lym... |
ORPHA:397596 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... |
OMIM:242700 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... |
OMIM:616005 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... |
OMIM:618048 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia |
OMIM:152800 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymp... |
OMIM:613101 |
| Immunodeficiency 27A |
|
Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, ... |
OMIM:209950 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... |
OMIM:613493 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
| Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating IgM level |
ORPHA:37748 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia |
OMIM:603552 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
| Rosaï-Dorfman Disease |
|
Anemia, Dysgammaglobulinemia, Lymphadenopathy |
ORPHA:158014 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo... |
OMIM:609981 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Absence of lymph node germin... |
OMIM:608184 |
| Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... |
OMIM:618459 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... |
ORPHA:331206 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Decreased specifi... |
OMIM:606367 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... |
OMIM:613501 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Bone marrow hypocellularity, Type I diabetes mellitus, Hemophago... |
OMIM:301078 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level |
OMIM:247800 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Microcytic anemia, Recurrent tonsillitis, Splenomegaly, Lymphadenopathy |
OMIM:618852 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... |
OMIM:612840 |
| Alpha-Heavy Chain Disease |
|
Anemia, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
| Mast Cell Sarcoma |
|
Mastocytosis, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy |
ORPHA:66661 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Auto... |
OMIM:616100 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... |
OMIM:613500 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Classic Mycosis Fungoides |
|
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, T lymphocytopenia, Panhypogammaglobulinemia |
OMIM:601457 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans... |
OMIM:619707 |
| Leishmaniasis |
|
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... |
ORPHA:507 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... |
OMIM:301082 |
| Immunodeficiency 32A |
|
Granuloma, Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618108 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Agammaglobulinemia, Hypoplasia of the thy... |
OMIM:243150 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... |
OMIM:613494 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... |
OMIM:618969 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... |
OMIM:619510 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... |
OMIM:617099 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... |
OMIM:208900 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot... |
OMIM:620210 |
| Tularemia |
|
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... |
ORPHA:3392 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... |
OMIM:613179 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal test... |
ORPHA:54251 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia |
OMIM:615387 |
| Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia |
OMIM:607115 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga... |
OMIM:612692 |
| Selective Igm Deficiency |
|
Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Paraproteinemia, ... |
ORPHA:331235 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Chronic decreased circulating IgG2, Decreased proportion of CD8-posit... |
OMIM:615607 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
| Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Hep... |
OMIM:615122 |
| Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly... |
OMIM:612783 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... |
ORPHA:859 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Intestinal lymphangiectasia |
OMIM:207731 |
| Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig... |
ORPHA:83313 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidat... |
OMIM:618935 |
| Immunodeficiency 25 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M... |
OMIM:619281 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... |
ORPHA:70593 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
| Sézary Syndrome |
|
Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly |
ORPHA:3162 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L... |
ORPHA:514 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Abnormal m... |
ORPHA:98848 |
| Cyclic Neutropenia |
|
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces... |
ORPHA:2686 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... |
ORPHA:35078 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... |
OMIM:615214 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lymph... |
ORPHA:169160 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... |
ORPHA:83471 |
| Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells |
ORPHA:133 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... |
ORPHA:3226 |
| Ataxia-Telangiectasia |
|
Aplasia/Hypoplasia of the thymus, Lymphopenia, Type II diabetes mellitus, Polycystic ovaries, Del... |
ORPHA:100 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Increased circulating IgE level, Decreased FOXP3-expressing T cell coun... |
OMIM:304790 |
| Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia |
OMIM:617827 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
| Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease... |
OMIM:615767 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Absence of lymph node germinal center, Panhypogammaglobul... |
ORPHA:79124 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia |
ORPHA:79477 |
| Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy |
ORPHA:545 |
| Agammaglobulinemia, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgA level, Lymph node hypoplasia, Agammagl... |
OMIM:300755 |
| Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... |
OMIM:620603 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... |
OMIM:617006 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Severe B lymphocytopenia, Increased circulating IgE level, Lymphopeni... |
OMIM:102700 |
| Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Throm... |
ORPHA:100026 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... |
OMIM:301081 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... |
OMIM:615592 |
| Omenn Syndrome |
|
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Hypothyroidism, Lymphad... |
ORPHA:39041 |
| Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:308230 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Myeloproliferative disorder, Lymphadenopathy, Lymphocytosis |
ORPHA:79456 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Pancy... |
OMIM:614700 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
| Pfapa Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
| Congenital Toxoplasmosis |
|
Anemia, Lymphadenopathy, Thrombocytopenia |
ORPHA:858 |
| Reticular Dysgenesis |
|
Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Abnormality of neutrophils, Decreased circu... |
ORPHA:33355 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Increased circulating antibody level, Lymphadenopathy, Thrombocytopeni... |
OMIM:617591 |
| Griscelli Syndrome |
|
Bone marrow hypocellularity, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Abnorma... |
ORPHA:381 |
| Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia |
OMIM:620514 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig... |
OMIM:618394 |
| Aggressive Systemic Mastocytosis |
|
Hypersplenism, Increased proportion of CD25+ mast cells, Hepatosplenomegaly, Pancytopenia, Leukoc... |
ORPHA:98850 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... |
OMIM:619705 |
| Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
| Immunodeficiency 20 |
|
Reduced natural killer cell activity, Reduced natural killer cell count |
OMIM:615707 |
| Roifman Syndrome |
|
Hepatosplenomegaly, Hypogonadotropic hypogonadism, Eosinophilia, Lymphadenopathy, Decreased circu... |
ORPHA:353298 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... |
OMIM:241600 |
| Immunodeficiency 92 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619652 |
| Tafro Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Elevat... |
ORPHA:457077 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Erythroid hypoplasia, ... |
OMIM:612541 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, B lymphocytopenia |
OMIM:619851 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... |
OMIM:614069 |
| Common Variable Immunodeficiency |
|
Lymphopenia, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, Autoimmune thro... |
ORPHA:1572 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Lack of T cell... |
ORPHA:572 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Chronic noninfectious lymph... |
ORPHA:319487 |
| Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly |
ORPHA:391 |
| Cold Agglutinin Disease |
|
Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia |
OMIM:615966 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... |
OMIM:618944 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Splen... |
ORPHA:436159 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
| Sea-Blue Histiocytosis |
|
Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Splenomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia, Abnormal ... |
ORPHA:158061 |
| Rhabdoid Tumor |
|
Anemia, Lymphadenopathy, Thrombocytopenia |
ORPHA:69077 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Decreased circulating ... |
ORPHA:90362 |
| Laryngeal Neuroendocrine Tumor |
|
Increased serum serotonin, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Adreno... |
ORPHA:100083 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
| Lig4 Syndrome |
|
Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Type II diabetes mellitus, Hypothyroi... |
ORPHA:99812 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Papillary thyroid ... |
ORPHA:97290 |
| Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombocytosis,... |
OMIM:615934 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Monocytosis |
OMIM:619644 |
| Acute Promyelocytic Leukemia |
|
Leukopenia, Pancytopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:520 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ... |
OMIM:301000 |
| Pgm3-Cdg |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
| Immunodeficiency 40 |
|
Thrombocytopenia, Eosinophilic granuloma, Reduced antigen-specific T cell proliferation, T lympho... |
OMIM:616433 |
| Cinca Syndrome |
|
Leukocytosis, Splenomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Abnormal granulo... |
ORPHA:1451 |
| Felty Syndrome |
|
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, Neutr... |
ORPHA:47612 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level |
ORPHA:2688 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Reduced ... |
OMIM:616050 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Hepatosplenomegaly, Hypothyroidism, Lymphadenopathy, Decreased circulating ant... |
OMIM:619750 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
| Cutaneous Neuroendocrine Carcinoma |
|
Merkel cell skin cancer, Lymphoid leukemia, Chronic noninfectious lymphadenopathy, Carcinoid tumor |
ORPHA:79140 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... |
OMIM:617780 |
| Heme Oxygenase 1 Deficiency |
|
Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Aspl... |
OMIM:614034 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Bone-marrow foam cells |
OMIM:257200 |
| Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis, Lymphadenopathy, Thyroiditis |
ORPHA:139402 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, Decreased circulating IgA level, Increased circulating IgM lev... |
OMIM:242860 |
| Roifman Syndrome |
|
Splenomegaly, Eosinophilia, Lymphadenopathy |
OMIM:616651 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo... |
OMIM:617718 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia |
OMIM:620133 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, L... |
OMIM:260920 |
| Immunodeficiency 31C |
|
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Splenomegaly, Autoimmune... |
OMIM:614162 |
| Legionnaires Disease |
|
Bone marrow hypocellularity, Lymphopenia, Lymphadenopathy, Splenomegaly |
ORPHA:549 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Myeloid leukemia, Anemia, Mediastinal... |
OMIM:614742 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Hemolytic anemia, Thrombocytopenia |
OMIM:616744 |
| Good Syndrome |
|
Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi... |
ORPHA:169105 |
| Desmoplastic Small Round Cell Tumor |
|
Lymphadenopathy, Testicular neoplasm, Anemia, Ovarian neoplasm, Mediastinal lymphadenopathy, Neop... |
ORPHA:83469 |
| Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Hypogonadotropic hypogonadism, Neutropenia |
OMIM:604250 |
| Syndromic Diarrhea |
|
Panhypogammaglobulinemia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Hypothyroidism, Th... |
ORPHA:84064 |
| Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Lymphopenia, Thrombocytopenia |
OMIM:618624 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... |
OMIM:616084 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| Macrocephaly/Autism Syndrome |
|
Lymphopenia, Decreased circulating antibody level, Splenomegaly, Hydrocele testis |
OMIM:605309 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Hemolytic anemia,... |
ORPHA:906 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Pancytopenia |
OMIM:617341 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Anemia, Lymphadenop... |
OMIM:603553 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Parotitis, Decreased circulating IgA level, Hepatosplenomegaly, Abnormal circulating IgG level, S... |
OMIM:620376 |
| Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia |
ORPHA:293173 |
| Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphopenia, T lymphocytopenia, Hypothyroidism, Lymphadenopathy, Neutropenia, Autoimmune thromboc... |
OMIM:607944 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... |
ORPHA:508533 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... |
OMIM:619752 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy |
OMIM:619183 |
| Isolated Anencephaly |
|
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes |
ORPHA:563609 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Reduced n... |
ORPHA:540 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia |
OMIM:267700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... |
OMIM:233710 |
| Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Leukocytosis, Splenomegaly, Generalized lymphadenopathy, Lymphadenop... |
ORPHA:829 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, L... |
OMIM:214500 |
| Pediatric Systemic Lupus Erythematosus |
|
Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Lymphadenopathy, Thrombocytopenia |
ORPHA:93552 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Lymphadenopathy, Thrombocytopenia, An... |
OMIM:610377 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr... |
OMIM:618223 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... |
OMIM:233690 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hypoplasia of the thymus, Cryptorchidism |
OMIM:214110 |
| Immunodeficiency 96 |
|
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... |
OMIM:619774 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Lymphopenia, Neutropenia |
OMIM:620443 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... |
OMIM:619381 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Increased proportion of exhausted T cells |
OMIM:618307 |
| Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin, Palmoplantar keratoderma |
ORPHA:85112 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... |
ORPHA:508542 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
| Vici Syndrome |
|
Decreased circulating IgG level, Cutaneous anergy, Lymphopenia, Leukopenia, Decreased proportion ... |
OMIM:242840 |
| Kaposi Sarcoma |
|
Abnormality of the spleen, Generalized lymphadenopathy |
ORPHA:33276 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
| Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan... |
ORPHA:50918 |
| Pleural Mesothelioma |
|
Lymphadenopathy |
ORPHA:50251 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Type I diabetes mellitus, Lymphopenia, Hepatosplenomegaly, Pancytope... |
OMIM:615688 |
| Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus |
OMIM:617022 |
| Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3... |
ORPHA:760 |
| Castleman Disease |
|
Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy, Thrombocytopenia, Anemia, D... |
ORPHA:160 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... |
OMIM:615758 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas... |
OMIM:620005 |
| Mixed Connective Tissue Disease |
|
Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Lymphadenopathy, Hemolytic anemia |
ORPHA:809 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Anemia |
OMIM:615895 |
| Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
| Whim Syndrome |
|
Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Neutropenia, Decreased cir... |
ORPHA:51636 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal pancreas morphology, Increased circulating IgE level, Increase... |
ORPHA:449432 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Type I diabetes mellitus, Autoimmune hemolytic anemia, Hashimoto thyroiditis,... |
ORPHA:436252 |
| Refractory Celiac Disease |
|
Normocytic anemia, Microcytic anemia, Abnormal spleen physiology, Macrocytic anemia, Increased pr... |
ORPHA:398063 |
| Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, B lymphocytopenia, Dec... |
OMIM:601495 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Ectropion, Squamous cell carcinoma of the skin, Melanoma, Entropion, Basal cell carcinoma, Conjun... |
OMIM:278740 |
| Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:2268 |
| Granulomatous Disease, Chronic, X-Linked |
|
Granuloma, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis... |
OMIM:306400 |
| Malt Lymphoma |
|
Anemia, Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Type I diabetes mellitus, Increased circulating IgE level, Splenomegaly, Autoimmune hemolytic ane... |
ORPHA:37042 |
| Papa Syndrome |
|
Type I diabetes mellitus, Lymphadenopathy, Increased circulating antibody level |
ORPHA:69126 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... |
ORPHA:158048 |
| American Trypanosomiasis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
| Mirage Syndrome |
|
Lymphopenia, Decreased testicular size, Leukopenia, Adrenal insufficiency, Cryptorchidism, Adrena... |
OMIM:617053 |
| Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... |
ORPHA:293978 |
| Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... |
ORPHA:276399 |
| Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... |
ORPHA:247806 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Lymphopenia, Cryptorchidism, Thrombocytopenia, Anemia |
OMIM:620365 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia |
ORPHA:391307 |
| Thyroid Lymphoma |
|
Goiter, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Lymphadenopathy |
ORPHA:97285 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Splenomegaly, Lymphadenopathy, Leukem... |
ORPHA:33226 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Mediastinal lymphadenopathy, Leukocytosis, Hilar lymph node enlargement |
OMIM:620233 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Abnormal T cell count, Panhypogammaglobulinemia, Decreased response to growth hormone stimulation... |
OMIM:307200 |
| Poems Syndrome |
|
Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insuff... |
ORPHA:2905 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Neutropenia |
OMIM:614868 |
| Carney Triad |
|
Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Lymphadenopathy, Anemia, Mediasti... |
ORPHA:139411 |
| Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Carcinoid tumor, Neuroendocrine neoplasm |
ORPHA:100084 |
| Thymic Neuroendocrine Tumor |
|
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... |
ORPHA:97289 |
| Lymphatic Filariasis |
|
Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Orchitis, Vaginal hydrocel... |
ORPHA:2035 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu... |
OMIM:127550 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Hypogonadism, Hepatosplenomegaly, Lymphadenopathy, Abnormal testi... |
ORPHA:85450 |
| Multiple Myeloma |
|
Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG... |
ORPHA:29073 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Cutaneous melanoma, Ectropion, Squamous cell carcinoma of the skin, Actinic keratosis, Entropion,... |
OMIM:278720 |
| Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ... |
ORPHA:1830 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... |
ORPHA:221139 |
| Hennekam Syndrome |
|
Lymphopenia, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, Pulmonary lymph... |
ORPHA:2136 |
| Huriez Syndrome |
|
Squamous cell carcinoma of the skin, Congenital palmoplantar hyperkeratosis |
OMIM:181600 |
| Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Lymphadenopathy |
ORPHA:2221 |
| Gardner Syndrome |
|
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... |
ORPHA:79665 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Increased circulating IgA level, Neutropenia, Bilateral cryptorchidism |
OMIM:616395 |
| Ebola Hemorrhagic Fever |
|
Lymphopenia, Leukopenia, Thrombocytopenia, Increased circulating antibody level |
ORPHA:319218 |
| Chronic Granulomatous Disease |
|
Abnormality of neutrophils, Mediastinal lymphadenopathy, Splenomegaly, Liver abscess |
ORPHA:379 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Microcytic anemia, Decreased seru... |
ORPHA:2959 |
| Fraser Syndrome 2 |
|
Hypoplasia of the thymus |
OMIM:617666 |
| Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Pancreatic adenocarcinoma, Hepatosplenomegaly, Ovarian carcinoma, Lymphadenop... |
ORPHA:1333 |
| Graft Versus Host Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:39812 |
| Acute Interstitial Pneumonia |
|
Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
| Neuroblastoma |
|
Anemia, Elevated circulating catecholamine level, Lymphadenopathy, Thrombocytopenia |
ORPHA:635 |
| Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy, Goiter |
ORPHA:142 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Hypoplasia of the thymus, Adrenal hypoplasia |
OMIM:613177 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ... |
OMIM:243700 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Type I diabetes mellitus, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Primary h... |
ORPHA:391487 |
| Fusariosis |
|
Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Lung abscess, Neutropenia |
ORPHA:228119 |
| Medullary Thyroid Carcinoma |
|
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Lym... |
ORPHA:1332 |
| H Syndrome |
|
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Hypogonadism, Delayed puberty, ... |
ORPHA:168569 |
| Chédiak-Higashi Syndrome |
|
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... |
ORPHA:167 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia |
OMIM:301110 |
| Reni Syndrome |
|
Hypogonadism, Lymphopenia, Adrenal insufficiency, Cryptorchidism, Hypothyroidism |
OMIM:617575 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Orchitis |
ORPHA:32960 |
| Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:36412 |
| Immunodeficiency 23 |
|
Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu... |
OMIM:615816 |
| Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
| Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Thyroiditis, Parotitis, Lymphopenia, Leukopenia, Decreased proportion of CD4-p... |
ORPHA:289390 |
| Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
| Bloom Syndrome |
|
Decreased circulating IgG level, Recurrent tonsillitis, Decreased circulating IgA level, Acute ly... |
ORPHA:125 |
| Immunodeficiency 87 And Autoimmunity |
|
Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decr... |
OMIM:619573 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Type I diabetes mellitus, Pancreatic hypoplasia, Cervical lymphadenopathy, Decreased response to ... |
OMIM:602782 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Decreased circulating antibody level |
OMIM:617425 |
| Schimke Immunoosseous Dysplasia |
|
Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorchidism, Lymphop... |
OMIM:242900 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Anemia |
ORPHA:935 |
| Digeorge Syndrome |
|
Cholelithiasis, Parathyroid hypoplasia, Impaired T cell function, Splenomegaly, Ovarian cyst, Hyp... |
OMIM:188400 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
| Proteus-Like Syndrome |
|
Abnormality of the parathyroid gland, Thymus hyperplasia, Splenomegaly, Polycystic ovaries |
ORPHA:2969 |
| Tangier Disease |
|
Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocyto... |
ORPHA:31150 |
| Q Fever |
|
Granuloma, Hepatosplenomegaly, Splenomegaly, Increased circulating antibody level, Lymphadenopath... |
ORPHA:781 |
| Brucellosis |
|
Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Orchitis, Lymphadenopathy, Thro... |
ORPHA:1304 |
| Treacher-Collins Syndrome |
|
Hypoplasia of the thymus, Abnormality of the adrenal glands, Thyroid hypoplasia, Cryptorchidism |
ORPHA:861 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of the colon, Lipoma, Mu... |
OMIM:620189 |
| Eec Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Anterior hypopit... |
ORPHA:1896 |
| Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
| Carcinoid Syndrome |
|
Increased serum serotonin, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoid tu... |
ORPHA:100093 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, T lymphoc... |
OMIM:251260 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Cowden Syndrome 1 |
|
Thyroid adenoma, Goiter, Lymphopenia, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Hyperthyro... |
OMIM:158350 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia |
ORPHA:536 |
| 22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Impaired T cell function, Splenomegaly, Cryptorchidism, Hypoplasia of the thymus,... |
ORPHA:567 |
| Hereditary Orotic Aciduria |
|
Anemia, Splenomegaly, Impaired T cell function |
ORPHA:30 |
| Familial Mediterranean Fever |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Orchitis |
ORPHA:342 |
| Reynolds Syndrome |
|
Lymphopenia, Splenomegaly |
OMIM:613471 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level, Lymphadenopathy |
ORPHA:343 |
| Pilomatrixoma |
|
Neoplasm of head and neck, Pilomatrixoma |
ORPHA:91414 |
| Dyskeratosis Congenita, Digenic |
|
Failure to thrive, Bilateral ptosis, Squamous cell carcinoma of the skin, Sparse eyelashes, Melan... |
OMIM:620040 |
| Congenital Syphilis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia |
ORPHA:499009 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:85408 |
| Neuroendocrine Tumor Of Stomach |
|
Increased serum serotonin, Increased circulating ACTH level, Chronic noninfectious lymphadenopath... |
ORPHA:100075 |
| Farber Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:333 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Abnormal salivary gland morphology, Increased circulating IgG4 level, A... |
ORPHA:79078 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ... |
ORPHA:99889 |
| Monosomy 22 |
|
Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia |
ORPHA:96123 |
| Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
| Avian Influenza |
|
Lymphopenia, Leukopenia, Thrombocytopenia |
ORPHA:454836 |
| Igg4-Related Ophthalmic Disease |
|
Increased circulating IgE level, Increased circulating IgG4 level, Sialadenitis, Orchitis, Eosino... |
ORPHA:449563 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R... |
ORPHA:99826 |
| Sarcoidosis |
|
Diabetes insipidus, Abnormal lymph node morphology, Parotitis, Leukopenia, Enlargement of parotid... |
ORPHA:797 |
| Cartilage-Hair Hypoplasia |
|
Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge... |
OMIM:250250 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Squamous cell carcinoma of the skin, Melanoma, Entropion, Ectropion, Conjunctivitis |
OMIM:278700 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... |
OMIM:301074 |
| Coccidioidomycosis |
|
Granuloma, Abnormality of the spleen, Abscess, Eosinophilia, Lymphadenopathy, Increased circulati... |
ORPHA:228123 |
| Generalized Pustular Psoriasis |
|
Lymphopenia, Leukocytosis |
ORPHA:247353 |
| Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
| Ileal Neuroendocrine Tumor |
|
Increased serum serotonin, Small intestine carcinoid, Iron deficiency anemia, Lymphadenopathy |
ORPHA:100078 |
| Pancreatoblastoma |
|
Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
| Turcot Syndrome With Polyposis |
|
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... |
ORPHA:99818 |
| Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
| Sarcoidosis, Susceptibility To, 1 |
|
Enlarged lacrimal glands, Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased... |
OMIM:181000 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Polysplenia, Splenomegaly, Lymphadenopathy, Anemia |
OMIM:619418 |
| Idiopathic Hypereosinophilic Syndrome |
|
Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinop... |
ORPHA:3260 |
| Alg12-Cdg |
|
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... |
ORPHA:79324 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Increased circulating IgE level, Increased circulating IgG4 level, Sialadenitis, E... |
ORPHA:449395 |
| Oculocutaneous Albinism Type 1A |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Hyperkeratosis |
ORPHA:79431 |
| Microsporidiosis |
|
Lymphadenitis, Abnormality of the parathyroid gland, Brain abscess, Abnormality of the spleen, De... |
ORPHA:2552 |
| Crimean-Congo Hemorrhagic Fever |
|
Parotitis, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Adrenal insufficiency, Orchitis,... |
ORPHA:99827 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Cervical lymphadenopathy |
OMIM:142680 |
| Noonan Syndrome 14 |
|
Lymphopenia, Cryptorchidism |
OMIM:619745 |
| Neuroendocrine Tumor Of The Colon |
|
Increased serum serotonin, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Atypical pulmo... |
ORPHA:100080 |
| Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Cryptorchidism, Hypothyroidism, Anemia, Diabetes mellitus |
OMIM:616541 |
| Truncus Arteriosus |
|
Hypoplasia of the thymus, Adrenocortical abnormality |
ORPHA:3384 |
| Aicardi-Goutieres Syndrome 7 |
|
Pancytopenia, Splenomegaly, Increased circulating antibody level, Generalized lymphadenopathy, Hy... |
OMIM:615846 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Secondary hyperaldosteronism, Lymphopenia, Decreased circulatin... |
ORPHA:90363 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Cryptorchidism, Biliary hyperpla... |
ORPHA:83617 |
| Bronchial Neuroendocrine Tumor |
|
Increased serum serotonin, Increased circulating cortisol level, Increased circulating ACTH level... |
ORPHA:97287 |
| Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
| Kawasaki Disease |
|
Cervical lymphadenopathy, Leukocytosis, Thrombocytosis |
ORPHA:2331 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Lymphopenia |
OMIM:619708 |
| Neuroendocrine Tumor Of The Rectum |
|
Increased serum serotonin, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Atypical pulmo... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Increased serum serotonin, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Atypical pulmo... |
ORPHA:100082 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Anemia, Splenomegaly, Lymphadenopathy |
ORPHA:667 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypoplasia of the thymus, Cryptorchidism, Increased serum testosterone level |
OMIM:264090 |
| Lujo Hemorrhagic Fever |
|
Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia |
ORPHA:319213 |
| Hermansky-Pudlak Syndrome |
|
Squamous cell carcinoma of the skin, Long eyelashes, Weight loss, Basal cell carcinoma, Hyperkera... |
ORPHA:79430 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Parotitis, Microcytic anemia, Spl... |
OMIM:256040 |
| Oculocutaneous Albinism Type 2 |
|
Cutaneous melanoma, Squamous cell carcinoma of the skin, White eyebrow, White eyelashes, Basal ce... |
ORPHA:79432 |
| Oculocutaneous Albinism Type 1B |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma |
ORPHA:79434 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Basal cell carcinoma, Melanoma, Cachexia, Squamous cell carcinoma of the skin |
ORPHA:220295 |
| Khan-Khan-Katsanis Syndrome |
|
Anemia, Lymphopenia, Neutropenia |
OMIM:618460 |
| Cherubism |
|
Submandibular lymph node enlargement |
OMIM:118400 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Increased serum serotonin, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Neuroendocrine... |
ORPHA:100085 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Neoplasm, Cutaneous melanoma |
OMIM:610651 |
| Leptospirosis |
|
Lymphadenopathy, Thrombocytopenia |
ORPHA:509 |
| Blau Syndrome |
|
Anemia, Splenomegaly, Abnormal salivary gland morphology, Lymphadenopathy |
ORPHA:90340 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Congenital hypothyroidism, Aplasia of the thymus, Hypoplastic nipples, Hypothyroid... |
OMIM:620186 |
| Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm |
ORPHA:100086 |
| Riddle Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:420741 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Squamous cell carcinoma of the skin, Papillary renal cell carcinoma, Absent eyelashes, Absent eye... |
ORPHA:363618 |
| Cushing Disease |
|
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Increased ci... |
ORPHA:96253 |
| Behçet Disease |
|
Splenomegaly, Lymphadenopathy, Orchitis |
ORPHA:117 |
| Lymphangioleiomyomatosis |
|
Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system |
ORPHA:538 |
| Malakoplakia |
|
Follicular hyperplasia, Orchitis |
ORPHA:556 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Squamous cell carcinoma of the skin, Palmoplantar keratoderma, Failure to thrive |
ORPHA:79396 |
| Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
| Neuroendocrine Neoplasm Of Appendix |
|
Increased serum serotonin, Primary hypercortisolism, Chronic noninfectious lymphadenopathy, Adren... |
ORPHA:100079 |
| Multiple Endocrine Neoplasia Type 2 |
|
Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p... |
ORPHA:653 |
| Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
| African Trypanosomiasis |
|
Hepatosplenomegaly, Splenomegaly, Abnormality of circulating cortisol level, Abnormality of renin... |
ORPHA:3385 |
| Plague |
|
Enlarged mesenteric lymph node, Lymphadenitis, Splenomegaly |
ORPHA:707 |
| Charge Syndrome |
|
Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to growth hormone st... |
OMIM:214800 |
| Proteus Syndrome |
|
Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic... |
ORPHA:744 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Highly arched eyebrow, Trichiasis, Failure to thrive, Downslanted palpebral fissures, Meningioma,... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Highly arched eyebrow, Trichiasis, Failure to thrive, Downslanted palpebral fissures, Meningioma,... |
ORPHA:353277 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Failure to thrive, Meningioma, Obesity, Neoplasm, Pilomatrixoma, Spinal cord tumor |
ORPHA:353281 |
| Tetrasomy 9P |
|
Epicanthus, Pilomatrixoma, Downslanted palpebral fissures |
ORPHA:3310 |
| Stroke, Ischemic |
|
|
OMIM:601367 |
