| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... |
OMIM:619924 |
| Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... |
OMIM:618987 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis |
ORPHA:60026 |
| Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... |
OMIM:618982 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
| Immunodeficiency 18 |
|
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly |
OMIM:269840 |
| Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells |
OMIM:619238 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... |
OMIM:615897 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... |
OMIM:619846 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
| Immunodeficiency 104 |
|
Lymphadenopathy, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... |
OMIM:617241 |
| Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... |
OMIM:619126 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hypoplasia of the thymus, Decre... |
OMIM:300400 |
| Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... |
OMIM:618261 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Lymphopenia, Absence of lymph node germinal center, B lymphocytopenia, T... |
ORPHA:277 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:169154 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
| Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... |
ORPHA:444463 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R... |
OMIM:614493 |
| Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
| Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... |
OMIM:618534 |
| Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Absent isohemagglutinin level, Splenomegaly, Increased prop... |
OMIM:615559 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Lymphadeno... |
OMIM:619802 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
| Omenn Syndrome |
|
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... |
OMIM:603554 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:603909 |
| Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... |
OMIM:619313 |
| Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... |
OMIM:614470 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Lymphocytosis, Abnormality of the lymp... |
ORPHA:911 |
| Kerion Celsi |
|
Lymphadenopathy, Recurrent cutaneous abscess formation |
ORPHA:499 |
| Burkitt Lymphoma |
|
Abnormality of the ovary, Decreased proportion of CD4-positive helper T cells, Abnormality of the... |
ORPHA:543 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... |
OMIM:602450 |
| Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... |
ORPHA:169079 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Absent peripheral lymph ... |
OMIM:600802 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased lymphocyte proliferation in response to anti-CD3, Neutropenia, Lymphopenia, Decreased c... |
OMIM:618986 |
| Immunodeficiency 68 |
|
Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Decreased CD4:CD8 rat... |
OMIM:618495 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
| Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Increased circulating I... |
ORPHA:482 |
| Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
| Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Decreased circulating IgA level, Decreased lymphocyte prol... |
ORPHA:276 |
| Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... |
OMIM:247630 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Immunodeficiency 36 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... |
OMIM:616005 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion... |
OMIM:619375 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... |
OMIM:618048 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Decr... |
OMIM:613101 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla... |
OMIM:308240 |
| Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... |
OMIM:209950 |
| Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia, Lymphadenopathy |
ORPHA:37748 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia |
OMIM:152800 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:603552 |
| Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy, Dysgammaglobulinemia |
ORPHA:158014 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... |
OMIM:608184 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased... |
OMIM:613011 |
| X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... |
ORPHA:2442 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
| Immunodeficiency 54 |
|
Adrenal insufficiency, Adrenocorticotropic hormone excess, Splenomegaly, Lymphadenopathy, Reduced... |
OMIM:609981 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytope... |
OMIM:301078 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... |
OMIM:613500 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph nodes, Hepatos... |
OMIM:612840 |
| Mast Cell Sarcoma |
|
Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy, Splenomegaly |
ORPHA:66661 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Microcytic anemia, Recurrent tonsillitis, Splenomegaly |
OMIM:618852 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Decr... |
OMIM:616100 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... |
OMIM:613179 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy |
OMIM:617718 |
| Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly |
ORPHA:2584 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
| Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level, Lymphopenia, Splenomegaly |
OMIM:605309 |
| Immunodeficiency 102 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:301082 |
| Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Dysgammaglobulinemia, Splenomegaly |
ORPHA:100025 |
| Leishmaniasis |
|
Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, P... |
ORPHA:507 |
| Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... |
OMIM:618969 |
| Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
| Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... |
OMIM:618108 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... |
OMIM:616636 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... |
OMIM:243150 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,... |
ORPHA:54251 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:86893 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619510 |
| Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis |
OMIM:607624 |
| Cinca Syndrome |
|
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:607115 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... |
ORPHA:70593 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ... |
ORPHA:35078 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
| Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Hemophagocytosis, Splenomegaly, Hepato... |
OMIM:615122 |
| Selective Igm Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Thyroid carcinoma, Decreased proportion of ... |
ORPHA:331235 |
| Transcobalamin Deficiency |
|
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... |
ORPHA:859 |
| Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hypersplenism, Bone marrow hypocellularity, Reticulo... |
ORPHA:3261 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... |
OMIM:619281 |
| Tularemia |
|
Increased circulating antibody level, Leukocytosis, Abnormal nasopharyngeal adenoid morphology, A... |
ORPHA:3392 |
| Immunodeficiency 25 |
|
Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia... |
OMIM:610163 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Intestinal lymphangiectasia |
OMIM:207731 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Abscess, Lymphadenitis, Hem... |
OMIM:618935 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... |
OMIM:240500 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hypoplasia of the ... |
OMIM:208900 |
| Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Splenomegaly, Mastocytosis, Increased proportion of CD25+ mast cel... |
ORPHA:98848 |
| Sézary Syndrome |
|
Abnormal lymphocyte morphology, Lymphadenopathy, Abnormal immunoglobulin level, Splenomegaly |
ORPHA:3162 |
| Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... |
ORPHA:514 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:169160 |
| Cyclic Neutropenia |
|
Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Cyclic neutropenia, Perianal absces... |
ORPHA:2686 |
| Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased circulating IgM ... |
ORPHA:83313 |
| Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
| Immunodeficiency 55 |
|
Neutropenia, Lymphopenia, Lymphadenopathy, Absent natural killer cells |
OMIM:617827 |
| Immunodeficiency 17 |
|
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro... |
OMIM:615607 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Impaired Ig cl... |
OMIM:605258 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... |
OMIM:619767 |
| Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:98293 |
| Ataxia-Telangiectasia |
|
Type II diabetes mellitus, Lymphopenia, Decreased circulating antibody level, Delayed puberty, Di... |
ORPHA:100 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Bone marrow h... |
ORPHA:3226 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Inappropriate antidiuretic hormone secretion, Hepatosplenomegaly, Absence of lymph node germinal ... |
ORPHA:79124 |
| Thymic Aplasia |
|
Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,... |
ORPHA:83471 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... |
OMIM:608106 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... |
OMIM:617006 |
| Agammaglobulinemia, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating IgE, Comp... |
OMIM:300755 |
| Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:545 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... |
OMIM:301081 |
| Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
| Griscelli Syndrome Type 2 |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy |
ORPHA:79477 |
| Gamma-Heavy Chain Disease |
|
Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmune hemolytic a... |
ORPHA:100026 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, B lymphocytopenia |
OMIM:619851 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Lymphopenia, Splenomegaly, Aplasia of the thymus, Absent specifi... |
OMIM:102700 |
| Omenn Syndrome |
|
Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Hypothyroidism, Anemia,... |
ORPHA:39041 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Hypothyroidism, Neut... |
OMIM:618849 |
| Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
| Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Lymphadenopathy, Abnormality of the spleen, Lymphocytosis |
ORPHA:79456 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Lymphopenia, Splenomegaly, Anemia, Thrombocytopenia, Lympha... |
OMIM:617591 |
| Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells |
ORPHA:133 |
| Griscelli Syndrome |
|
Splenomegaly, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level, Bone ... |
ORPHA:381 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... |
OMIM:308230 |
| Primary Myelofibrosis |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... |
ORPHA:824 |
| Reticular Dysgenesis |
|
Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level, Aplasia/Hypoplasia ... |
ORPHA:33355 |
| Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:42642 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... |
OMIM:619705 |
| Congenital Toxoplasmosis |
|
Anemia, Thrombocytopenia, Lymphadenopathy |
ORPHA:858 |
| Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:614700 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... |
OMIM:618394 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
| Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... |
ORPHA:86843 |
| Immunodeficiency 92 |
|
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... |
OMIM:619652 |
| Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... |
ORPHA:98850 |
| Immunodeficiency 31C |
|
Lymphopenia, Hypothyroidism, Delayed puberty, Diabetes mellitus, Autoimmune hemolytic anemia |
OMIM:614162 |
| Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating total IgM, Decreased proportion of class-s... |
OMIM:618944 |
| Roifman Syndrome |
|
Hypogonadotropic hypogonadism, Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody l... |
ORPHA:353298 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hypothyroidism, Type... |
OMIM:304790 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... |
ORPHA:158061 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia i... |
ORPHA:572 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomeg... |
OMIM:612541 |
| Common Variable Immunodeficiency |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Decreased circulating a... |
ORPHA:1572 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
| Immunodeficiency 20 |
|
Reduced natural killer cell activity, Reduced natural killer cell count |
OMIM:615707 |
| Rhabdoid Tumor |
|
Anemia, Thrombocytopenia, Lymphadenopathy |
ORPHA:69077 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinom... |
ORPHA:319487 |
| Cold Agglutinin Disease |
|
Hemolytic anemia, Lymphadenopathy, Splenomegaly |
ORPHA:56425 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level, Lymphopenia |
ORPHA:1116 |
| Laryngeal Neuroendocrine Tumor |
|
Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone... |
ORPHA:100083 |
| Lig4 Syndrome |
|
Type II diabetes mellitus, Leukocytosis, Hypothyroidism, Pancytopenia, Cryptorchidism, Lymphadeno... |
ORPHA:99812 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:158029 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinom... |
ORPHA:97290 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
| Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly |
ORPHA:391 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Increased circulating IgA level, Leukopenia, Follicular hyperplasia, Increased circu... |
OMIM:615934 |
| Felty Syndrome |
|
Splenomegaly, Abnormal lymphocyte morphology, Neutropenia, Bone marrow hypocellularity, Anemia, T... |
ORPHA:47612 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia, Lymphadenopathy |
OMIM:619644 |
| Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... |
OMIM:301000 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
ORPHA:90362 |
| Cinca Syndrome |
|
Leukocytosis, Splenomegaly, Abnormal granulocyte morphology, Abnormality of neutrophils, Anemia, ... |
ORPHA:1451 |
| Heme Oxygenase 1 Deficiency |
|
Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Thrombocytosis, Lym... |
OMIM:614034 |
| Autoinflammation With Infantile Enterocolitis |
|
Splenomegaly, Reduced natural killer cell activity, Pancytopenia, Anemia, Thrombocytopenia, Reduc... |
OMIM:616050 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia |
ORPHA:2688 |
| Cutaneous Neuroendocrine Carcinoma |
|
Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer, Lymphoid leukemia |
ORPHA:79140 |
| Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:443811 |
| Acute Promyelocytic Leukemia |
|
Leukocytosis, Leukopenia, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Lymphadenopathy |
ORPHA:520 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... |
OMIM:615767 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Hypothyroidism, Microcytic anemia, Decreased circulating antibody level, Lymp... |
OMIM:619750 |
| Fish-Eye Disease |
|
Lymphadenopathy, Splenomegaly |
ORPHA:79292 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Splenomegaly, Microcytic anemia, Bone-marrow foam cells, Lymphadenopathy |
OMIM:257200 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Roifman Syndrome |
|
Eosinophilia, Lymphadenopathy, Splenomegaly |
OMIM:616651 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... |
OMIM:242860 |
| Adult-Onset Still Disease |
|
Neutrophilia, Leukocytosis, Splenomegaly, Generalized lymphadenopathy, Bone marrow hypocellularity |
ORPHA:829 |
| Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
| Hyper-Igd Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Lymphadenitis, Hepatos... |
OMIM:260920 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Lymphopenia |
OMIM:616744 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphadenopathy, Lymphocytosis, Thyroiditis |
ORPHA:139402 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... |
OMIM:616084 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
| Syndromic Diarrhea |
|
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Panhypogammaglobulinemia, Increased mean pla... |
ORPHA:84064 |
| Legionnaires Disease |
|
Bone marrow hypocellularity, Lymphadenopathy, Lymphopenia, Splenomegaly |
ORPHA:549 |
| Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Anemia, Lymphopenia, Neutropenia |
OMIM:604250 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia, Decreased response to growth hormone stimulation test |
OMIM:618624 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Thymoma, Mediastinal lymphadenopathy, Decreased circulating antibo... |
ORPHA:169105 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ovarian neoplasm, Mediastinal lymphadenopathy, Testicular neoplasm, Ane... |
ORPHA:83469 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619752 |
| Granulomatous Slack Skin |
|
Abnormality of the lymph nodes |
ORPHA:33111 |
| Wiskott-Aldrich Syndrome |
|
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platelet function... |
ORPHA:906 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly |
OMIM:619183 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Aplastic anemia, Myeloid leukemia, Mediastinal lymphadenopathy, Pancytopenia, Bone marrow hypocel... |
OMIM:614742 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, Decreased circulating IgG... |
ORPHA:508533 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Splenomegaly, Reduced natural killer cell activity, Decreased circulating antib... |
ORPHA:540 |
| Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric... |
OMIM:214500 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphopenia, Autoimmune thrombocytopenia, T lymphocytopenia, Hypothyroidism, Neutropenia, Lymphad... |
OMIM:607944 |
| Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus |
OMIM:617022 |
| Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Reduced natural killer cell activ... |
OMIM:603553 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Lymphadenitis, Liver abscess, Granulomatosis, Rectal abscess, Lymphadenopathy, Impa... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Lymphadenitis, Liver abscess, Granulomatosis, Rectal abscess, Lymphadenopathy, Impa... |
OMIM:233710 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
| Lymphedema, Primary, With Myelodysplasia |
|
Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio, Pancytopenia |
OMIM:614038 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Lymphadenitis, Liver abscess, Granulomatosis, Rectal abscess, Lymphadenopathy, Impa... |
OMIM:233690 |
| Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Leukopenia, Microangiopathic hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
ORPHA:93552 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Splenomegaly, Leukopenia, Anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:267700 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:85414 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hypoplasia of the thymus, Cryptorchidism |
OMIM:214110 |
| Mevalonic Aciduria |
|
Leukocytosis, Fluctuating splenomegaly, Normocytic hypoplastic anemia, Hepatosplenomegaly, Increa... |
OMIM:610377 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... |
OMIM:243700 |
| Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Palmoplantar keratoderma, Squamous cell carcinoma of the skin |
ORPHA:85112 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly |
ORPHA:169090 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thr... |
ORPHA:508542 |
| Kaposi Sarcoma |
|
Generalized lymphadenopathy, Abnormality of the spleen |
ORPHA:33276 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytosis, Type I d... |
OMIM:615688 |
| Kikuchi-Fujimoto Disease |
|
Lymphocytosis, Splenomegaly, Cervical lymphadenopathy, Abnormality of the lymph nodes, Leukopenia... |
ORPHA:50918 |
| Porokeratosis |
|
Squamous cell carcinoma of the skin, Hyperkeratosis |
ORPHA:79358 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,... |
OMIM:619381 |
| Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... |
OMIM:619774 |
| Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Squamous cell carcinoma of the skin, Verruca plana |
OMIM:618231 |
| Whim Syndrome |
|
Lymphopenia, Lymphadenitis, Decreased circulating antibody level, Neutropenia, Parotitis, Abnorma... |
ORPHA:51636 |
| Mixed Connective Tissue Disease |
|
Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Hemolytic anemia, Lymphadenopathy |
ORPHA:809 |
| Vici Syndrome |
|
Decreased circulating IgG level, Decreased T cell activation, Decreased proportion of CD4-positiv... |
OMIM:242840 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... |
ORPHA:760 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Leukocytosis, Splenomegaly, Lymphadenitis, Anemia, Lymphadenopathy |
OMIM:615895 |
| Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Abnormality of the thyroid gland, Abnormal pancreas morphol... |
ORPHA:449432 |
| Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia |
OMIM:617237 |
| Pleural Mesothelioma |
|
Lymphadenopathy |
ORPHA:50251 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Hypoplasia of the thymus, Peritoneal abscess, Type I diabetes mellitus, Rectal abscess, Hashimoto... |
ORPHA:436252 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te... |
ORPHA:293978 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Panhypogammaglobulinemia, Decreased circulating antibody level, Rectal abscess... |
OMIM:601495 |
| Refractory Celiac Disease |
|
Increased proportion of HLA DR+ T cells, Normocytic anemia, Iron deficiency anemia, Macrocytic an... |
ORPHA:398063 |
| Epidermodysplasia Verruciformis, X-Linked |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:305350 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Ectropion, Melanoma, Basal cell carcinoma, Entropion, Squamous cell carcinoma of the skin, Conjun... |
OMIM:278740 |
| Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
| Scrub Typhus |
|
Lymphadenopathy, Splenomegaly |
ORPHA:83317 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancytopenia, A... |
ORPHA:158048 |
| Castleman Disease |
|
Decreased mean corpuscular volume, Follicular hyperplasia, Mediastinal lymphadenopathy, Generaliz... |
ORPHA:160 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... |
ORPHA:486 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Decreased circulating IgA level, Lymphopenia, Cryptorchidism, Decreased circulating IgG level, Se... |
OMIM:620005 |
| Granulomatous Disease, Chronic, X-Linked |
|
Impaired oxidative burst, Splenomegaly, Lymphadenitis, Granulomatosis, Rectal abscess, Granuloma,... |
OMIM:306400 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Lymphopenia, Aplastic anemia, Bone marrow hypocellularity, Anemia, Thrombocytopenia |
OMIM:127550 |
| Icf Syndrome |
|
Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Lymphopenia |
ORPHA:2268 |
| American Trypanosomiasis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:3386 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level, Lymphadenopathy, Type I diabetes mellitus |
ORPHA:69126 |
| Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
| Malt Lymphoma |
|
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the thyroid gland |
ORPHA:52417 |
| Mirage Syndrome |
|
Adrenal insufficiency, Lymphopenia, Cryptorchidism, Hypergonadotropic hypogonadism, Leukopenia, H... |
OMIM:617053 |
| Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... |
ORPHA:276399 |
| Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
| Poems Syndrome |
|
Increased circulating antibody level, Abnormality of the endocrine system, Polycythemia, Increase... |
ORPHA:2905 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormality of the endocrine system, Neutropenia in presence of anti-neutropil antibodies, Hypert... |
ORPHA:37042 |
| Thyroid Lymphoma |
|
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter, Lymphadenopathy |
ORPHA:97285 |
| Waldenström Macroglobulinemia |
|
Splenomegaly, Normocytic anemia, Abnormality of neutrophils, Monoclonal immunoglobulin M proteine... |
ORPHA:33226 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia |
ORPHA:391307 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
| Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Lymphopenia, Hypothyroidism, Hypogonadism, Cryptorchidism |
OMIM:617575 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Ectropion, Cutaneous melanoma, Basal cell carcinoma, Entropion, Squamous cell carcinoma of the sk... |
OMIM:278720 |
| Middle Ear Neuroendocrine Tumor |
|
Carcinoid tumor, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm |
ORPHA:100084 |
| Carney Triad |
|
Adrenocortical adenoma, Pheochromocytoma, Mediastinal lymphadenopathy, Paraganglioma, Adrenal ove... |
ORPHA:139411 |
| Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... |
ORPHA:221139 |
| Huriez Syndrome |
|
Squamous cell carcinoma of the skin, Congenital palmoplantar hyperkeratosis |
OMIM:181600 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the lymph nodes, Hepatosplenomegaly, Hypogonadism, Anemia, Lymphadenopathy, Abnorm... |
ORPHA:85450 |
| Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... |
ORPHA:97289 |
| Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Impaired T cell function, Abnormal lymphocyte physiology, Abnormal proportion of nai... |
ORPHA:1830 |
| Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Decreased circula... |
ORPHA:29073 |
| Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... |
ORPHA:79665 |
| Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Hepatosplenomegaly, Ovarian carcinoma, Peritoneal abscess, Diabetes me... |
ORPHA:1333 |
| Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy, Ovarian neoplasm |
ORPHA:2221 |
| Trichothiodystrophy 3, Photosensitive |
|
Increased circulating IgA level, Bilateral cryptorchidism, Lymphopenia, Neutropenia |
OMIM:616395 |
| Lymphatic Filariasis |
|
Hydrocele testis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia... |
ORPHA:2035 |
| Hennekam Syndrome |
|
Lymphangioma, Lymphopenia, Splenomegaly, Pulmonary lymphangiectasia, Decreased circulating antibo... |
ORPHA:2136 |
| Nijmegen Breakage Syndrome |
|
B lymphocytopenia, T lymphocytopenia, Dysgammaglobulinemia, Autoimmune hemolytic anemia, Thromboc... |
OMIM:251260 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Decreased serum testosterone concentration, Hypergonadotropic hypogonad... |
ORPHA:2959 |
| Chronic Granulomatous Disease |
|
Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess, Splenomegaly |
ORPHA:379 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Abnormality of the endocrine system, Neutropenia in presence of anti-neutropil antibodies, Lympho... |
ORPHA:391487 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... |
OMIM:600903 |
| Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:319218 |
| Medullary Thyroid Carcinoma |
|
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Elevated calcitonin, ... |
ORPHA:1332 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Splenomegal... |
ORPHA:167 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Lymphadenopathy, Orchitis, Leukocytosis, Splenomegaly |
ORPHA:32960 |
| Acute Interstitial Pneumonia |
|
Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
| Fusariosis |
|
Lymphopenia, Abnormality of the spleen, Brain abscess, Neutropenia, Granuloma, Lung abscess |
ORPHA:228119 |
| H Syndrome |
|
Histiocytosis, Hepatosplenomegaly, Microcytic anemia, Decreased testicular size, Hypogonadism, De... |
ORPHA:168569 |
| Graft Versus Host Disease |
|
Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis |
ORPHA:39812 |
| Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Goiter, Lymphadenopathy, Anaplastic thyroid carcinoma |
ORPHA:142 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Decreased circulating antibody level, Lymphopenia |
OMIM:617425 |
| Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
| Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Thrombocytopenia, Pancytopenia, Elevated circulating thyroid-stimulating hormone con... |
OMIM:242900 |
| Hypocomplementemic Urticarial Vasculitis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:36412 |
| Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
| Popov-Chang syndrome |
|
Decreased circulating antibody level, Lymphopenia |
OMIM:618428 |
| Immunodeficiency 23 |
|
Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Hemolytic anemia, Increased ... |
OMIM:615816 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Histiocytosis, Decreased response to growth hormone stimulation test, Splenomegaly, Cervical lymp... |
OMIM:602782 |
| Primary Sjögren Syndrome |
|
Increased circulating antibody level, Lymphopenia, Leukopenia, Normocytic anemia, Parotitis, Decr... |
ORPHA:289390 |
| Brucellosis |
|
Orchitis, Leukocytosis, Splenomegaly, Leukopenia, Increased circulating IgG level, Thrombocytosis... |
ORPHA:1304 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Anemia, Lymphopenia |
ORPHA:935 |
| Tangier Disease |
|
Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thrombocytopenia, Orange disco... |
ORPHA:31150 |
| Digeorge Syndrome |
|
Hydrocele testis, Cholelithiasis, Decreased circulating parathyroid hormone level, Splenomegaly, ... |
OMIM:188400 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Absent circulating B cells, Decreased response to growth hormone stimulation test, Delayed pubert... |
OMIM:307200 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
| Q Fever |
|
Increased circulating antibody level, Splenomegaly, Hepatosplenomegaly, Granuloma, Anemia, Thromb... |
ORPHA:781 |
| Eec Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Anterior hypopit... |
ORPHA:1896 |
| Proteus-Like Syndrome |
|
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly |
ORPHA:2969 |
| Bloom Syndrome |
|
Decreased circulating IgA level, Abnormal proportion of CD8-positive T cells, Decreased circulati... |
ORPHA:125 |
| Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
| Treacher-Collins Syndrome |
|
Hypoplasia of the thymus, Cryptorchidism, Thyroid hypoplasia, Abnormality of the adrenal glands |
ORPHA:861 |
| Immunodeficiency 87 And Autoimmunity |
|
Lymphopenia, Cervical lymphadenopathy, Thrombocytopenia, Hemolytic anemia, Abnormal lymphocyte pr... |
OMIM:619573 |
| Cowden Syndrome 1 |
|
Hydrocele testis, Lymphopenia, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Decreased circulati... |
OMIM:158350 |
| Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
| 22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Hypoparathyroidism, Hyperthyroidism, Splenomegaly, Hypoplasia of the thymus, Impa... |
ORPHA:567 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Anemia, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85408 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Lymphadenopathy, Increased circulating IgA level |
ORPHA:343 |
| Hereditary Orotic Aciduria |
|
Anemia, Impaired T cell function, Splenomegaly |
ORPHA:30 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
| Carcinoid Syndrome |
|
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcinoid tumor, Chronic noninfect... |
ORPHA:100093 |
| Dyskeratosis Congenita, Digenic |
|
Failure to thrive, Sparse eyelashes, Melanoma, Bilateral ptosis, Basal cell carcinoma, Squamous c... |
OMIM:620040 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Abnormal salivary gland morphology, Increased circulating IgG4 l... |
ORPHA:79078 |
| Igg4-Related Ophthalmic Disease |
|
Sialadenitis, Orchitis, Eosinophilia, Increased circulating IgG4 level, Enlarged lacrimal glands,... |
ORPHA:449563 |
| Farber Disease |
|
Anemia, Thrombocytopenia, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:333 |
| Neuroendocrine Tumor Of Stomach |
|
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcinoid tumor, Chronic noninfect... |
ORPHA:100075 |
| Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
| Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
| Ileal Neuroendocrine Tumor |
|
Increased serum serotonin, Lymphadenopathy, Small intestine carcinoid, Iron deficiency anemia |
ORPHA:100078 |
| Jejunal Neuroendocrine Tumor |
|
Increased serum serotonin, Lymphadenopathy, Small intestine carcinoid, Iron deficiency anemia |
ORPHA:100077 |
| Marburg Hemorrhagic Fever |
|
Increased circulating antibody level, Lymphopenia, Orchitis, Leukopenia, Abnormal lymphocyte morp... |
ORPHA:99826 |
| Cartilage-Hair Hypoplasia |
|
Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia, Impaired lymphocyte transformation... |
OMIM:250250 |
| Monosomy 22 |
|
Hepatosplenomegaly, Hypochromic microcytic anemia, Aplasia of the thymus |
ORPHA:96123 |
| Sarcoidosis |
|
Hyperthyroidism, Abnormality of the lymph nodes, Eosinophilia, Leukopenia, Abnormality of the adr... |
ORPHA:797 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... |
ORPHA:99889 |
| Duodenal Neuroendocrine Tumor |
|
Elevated circulating growth hormone concentration, Increased hematocrit, Glucagonoma, Increased c... |
ORPHA:100076 |
| Avian Influenza |
|
Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:454836 |
| Coccidioidomycosis |
|
Abnormality of the endocrine system, Eosinophilia, Abscess, Abnormality of the spleen, Mediastina... |
ORPHA:228123 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Perianal abscess, Reduced natural killer c... |
OMIM:301074 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Splenomegaly, Accessory spleen, Anemia, Polysplenia, Lymphadenopathy |
OMIM:619418 |
| Turcot Syndrome With Polyposis |
|
