B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Recurr... |
OMIM:605258 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Recurrent viral infections, Decreased CD4:CD8 ratio... |
OMIM:615897 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Lymphadenopathy, Recurrent infections, Increased circulating IgG... |
OMIM:618982 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Recurrent bacterial infections, Increase... |
OMIM:608106 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level, Recurrent infections |
OMIM:235900 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... |
OMIM:619924 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... |
OMIM:609529 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... |
OMIM:613502 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Increased circulating IgA level, Recurrent viral infections, Decreased p... |
OMIM:618048 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infections |
OMIM:146830 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Failure to thrive in infancy, Cervical lymphadenopathy, Decreas... |
OMIM:618987 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... |
OMIM:612692 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Reduced natural ki... |
OMIM:300400 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobuli... |
ORPHA:98813 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination... |
OMIM:308230 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Increased circu... |
OMIM:601859 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... |
OMIM:619824 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... |
OMIM:607594 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Decreased ci... |
OMIM:137100 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion of memory B cells, ... |
OMIM:618459 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Immunodeficiency 95 |
|
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... |
OMIM:619773 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Recurrent infections |
OMIM:616941 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Recurrent infections, Anemia, Leukopenia, Increased c... |
OMIM:615285 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron... |
OMIM:212050 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... |
OMIM:233650 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Increased circu... |
OMIM:603909 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... |
OMIM:300988 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections |
OMIM:616911 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... |
OMIM:202700 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Absence of lymph node germinal center, Recurrent opportunistic infections, Recurrent... |
ORPHA:277 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections, Monocytosis, Decr... |
OMIM:615592 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infections, Increased c... |
ORPHA:276 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Lymphadenopa... |
OMIM:240500 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent upper respiratory tract infections, ... |
OMIM:618944 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... |
OMIM:617765 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Follicular hyperplasia, Autoimm... |
OMIM:614470 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... |
OMIM:619281 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Recurrent respiratory infections, Increased circulating IgE leve... |
OMIM:615767 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections |
OMIM:606445 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... |
OMIM:301082 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD... |
OMIM:619846 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Recurrent pneumonia, Recurrent candida infections, Recurrent infection... |
ORPHA:169160 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Failure to thrive, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent oppo... |
ORPHA:275 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Recurrent candid... |
OMIM:269840 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Chronic lymphatic leukem... |
OMIM:616005 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Lymphopenia, Autoimmune thrombocytopenia, Splenomeg... |
OMIM:617514 |
Pgm3-Cdg |
|
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk... |
ORPHA:443811 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Recu... |
OMIM:300291 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Recurrent infections, ... |
OMIM:618261 |
Immunodeficiency 11A |
|
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... |
OMIM:615206 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Lymphopenia, Failure to thrive in infancy, Decreased circulatin... |
OMIM:619510 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... |
OMIM:615214 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... |
OMIM:618495 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circulating antibody... |
ORPHA:100024 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Lymphopenia, Increased circulating IgA level, Follicular hyperp... |
OMIM:615934 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac... |
ORPHA:169079 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Failure to thrive in infancy, Increased circulating IgA level, Leukocytosis, Lympha... |
OMIM:617099 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... |
OMIM:619774 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... |
ORPHA:35078 |
Immunodeficiency 43 |
|
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... |
OMIM:241600 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Recurrent upper respiratory tract infections, Recurrent candida infections, Decreased circulating... |
OMIM:614069 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased... |
OMIM:616740 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased circulating total IgM, ... |
OMIM:618394 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... |
OMIM:617388 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Absence of lymph node germin... |
OMIM:608184 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... |
OMIM:617241 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Recurrent viral infections... |
ORPHA:217390 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... |
OMIM:267500 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent up... |
OMIM:616100 |
Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Increased circulating IgA level, Recurrent infections, Neutropenia, Lymphopenia |
OMIM:616395 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Failure to thriv... |
OMIM:606367 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody level, Lymphadenopathy, Incre... |
ORPHA:397596 |
Kimura Disease |
|
Eosinophilia, Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Immunodeficiency 15A |
|
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport... |
OMIM:618204 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B cells, Failure to thrive... |
OMIM:619693 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Recurrent opportunistic infections, T lymphocytopenia, B lymphocytopenia, Failure to thrive secon... |
OMIM:601457 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent lower respiratory tract infections, Failure to thrive, Decreased circulating IgA level,... |
OMIM:617744 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Abnormal immunoglobulin level, Recurrent infections |
OMIM:614102 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... |
OMIM:193670 |
Wiskott-Aldrich Syndrome |
|
Sepsis, Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Absent microvilli on... |
OMIM:301000 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytosis, Recurre... |
OMIM:260920 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia... |
OMIM:243700 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... |
OMIM:308240 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Failure to thrive, Severe B lymphocytopenia, Aplasia of the th... |
OMIM:102700 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Decreased circulating antibody level, Agam... |
OMIM:601495 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Decrea... |
OMIM:614878 |
Immunodeficiency 84 |
|
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess |
OMIM:619437 |
Immunodeficiency 22 |
|
Failure to thrive, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decre... |
OMIM:615758 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Recu... |
OMIM:602450 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Perianal abscess, Decreased circulating antibody level, T lymph... |
OMIM:618108 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Sepsis, Leukopenia, T lymphocytopenia, Neutropenia, D... |
OMIM:618986 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Increased circula... |
OMIM:619752 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se... |
OMIM:300755 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... |
ORPHA:555905 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Generalized lymphadenopathy, Sepsis, Decreased circulating IgG level, Autoimmune thrombocytopenia... |
OMIM:614700 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,... |
OMIM:209950 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eosinophilia, Recurrent pneumonia, Increased circulating IgE le... |
OMIM:618282 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
OMIM:600802 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Increased circulating IgE ... |
OMIM:147060 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent viral infections, Abnormal CD4:CD8 ratio, Recurrent candida infections, T lymphocytopen... |
ORPHA:572 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Frequent Giardia lamblia infestation, Recurrent pneumonia, Decre... |
OMIM:615577 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Re... |
ORPHA:436159 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Abnormal ... |
OMIM:619652 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Weight loss, Lymphadenopathy, Increased circulatin... |
ORPHA:29073 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Lymphocytosis, Autoimmune thrombocytopenia, Hepatosple... |
ORPHA:911 |
Selective Igm Deficiency |
|
Recurrent staphylococcal infections, Lymphadenitis, Paraproteinemia, Sepsis, Recurrent cutaneous ... |
ORPHA:331235 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Recurrent pneumonia, Recurrent bronchiolitis, Increased circulating IgE level |
OMIM:616069 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss |
ORPHA:411593 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent urinary tract infections, Recurrent viral infections, Recurrent upper respiratory tract... |
OMIM:209920 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Paraproteinemia, Weight los... |
ORPHA:91139 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Rec... |
OMIM:226990 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Failure to thrive, Decreased circulating IgA level |
DECIPHER:45 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Lymphadenopathy, Increased circulating IgA level |
ORPHA:343 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... |
OMIM:619164 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Recurrent infections, Lymphadenopathy, B ... |
OMIM:301078 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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Abnormal T cell morphology, Small for gestational age, Decreased circulating IgA level |
OMIM:215250 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
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Splenomegaly, Recurrent respiratory infections, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
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Increased circulating IgE level |
OMIM:144200 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
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Recurrent otitis media, Recurrent respiratory infections, Increased circulating IgE level, Eosino... |
OMIM:618523 |
Ige Responsiveness, Atopic |
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Increased circulating IgE level |
OMIM:147050 |
Myeloma, Multiple |
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Paraproteinemia |
OMIM:254500 |
Leishmaniasis |
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Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymphadenopathy, We... |
ORPHA:507 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
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Increased circulating IgE level, Recurrent infections |
OMIM:618985 |
Immunodeficiency 21 |
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Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... |
OMIM:614172 |
Transcobalamin Ii Deficiency |
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Decreased circulating IgG level, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticuloc... |
OMIM:275350 |
Immunodeficiency 11B With Atopic Dermatitis |
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Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia |
OMIM:617638 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Recurrent respiratory infections, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte... |
ORPHA:79124 |
Postinfectious Vasculitis |
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Increased circulating IgA level, Recurrent mycobacterial infections, Recurrent candida infections... |
ORPHA:48435 |
Schnitzler Syndrome |
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Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia |
ORPHA:37748 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia... |
OMIM:150550 |
Insulin-Resistance Syndrome Type B |
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Abnormality of body weight, Decreased circulating complement factor B concentration, Increased ci... |
ORPHA:2298 |
Primary Biliary Cholangitis |
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Onychomycosis, Increased circulating IgM level, Recurrent fungal infections, Increased circulatin... |
ORPHA:186 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
Immunodeficiency 17 |
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Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... |
OMIM:615607 |
Netherton Syndrome |
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Recurrent respiratory infections, Failure to thrive, Increased circulating IgE level, Hypereosino... |
OMIM:256500 |
Immunodeficiency 13 |
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Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased proport... |
OMIM:615518 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Increased circulating IgM level, T lymphocytopenia, Failure to thrive, Reduced natural killer cel... |
OMIM:242860 |
Dyskeratosis Congenita, Digenic |
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Decreased circulating IgG level, Recurrent infections, Decreased circulating total IgM, Failure t... |
OMIM:620040 |
Immunodeficiency 23 |
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Recurrent respiratory infections, Hemolytic anemia, Lymphopenia, Abscess, Recurrent staphylococca... |
OMIM:615816 |
Omenn Syndrome |
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Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... |
OMIM:603554 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Recurrent urinary tract infections, Decreased lymphocyte proliferation in response to anti-CD3, R... |
ORPHA:221139 |
Primary Intestinal Lymphangiectasia |
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Lymphopenia, Weight loss, Decreased circulating antibody level, Decreased circulating total IgM, ... |
ORPHA:90362 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Lymphopenia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Recurrent infections, Increased cir... |
OMIM:617591 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... |
OMIM:256040 |
Immunodeficiency 47 |
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Accessory spleen, Normocytic anemia, Splenomegaly, Decreased circulating antibody level, Recurren... |
OMIM:300972 |
Igg4-Related Aortitis |
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Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Weight loss... |
ORPHA:449400 |
Prolidase Deficiency |
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Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Recurrent infections, Increased circulating ... |
OMIM:170100 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Recurrent respiratory infections, Recurrent urinary tract infections, Liver abscess, Recurrent up... |
ORPHA:183675 |
Ataxia-Telangiectasia |
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Decreased circulating IgG level, Lymphopenia, Failure to thrive, Acute lymphoblastic leukemia, T ... |
OMIM:208900 |
Tularemia |
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Brain abscess, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Leukocytosis, Thrombocytope... |
ORPHA:3392 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Increased circulating IgG4 level, Increased circulating IgA level, Weight loss, Lymphadenopathy, ... |
ORPHA:79078 |
Epilepsy-Telangiectasia Syndrome |
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Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Erythema Elevatum Diutinum |
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Increased circulating antibody level |
ORPHA:90000 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE level, Lym... |
OMIM:304790 |
Autoinflammatory Disease, Systemic, X-Linked |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
C3 Glomerulopathy |
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Decreased circulating complement C3 concentration, Paraproteinemia, Decreased circulating complem... |
ORPHA:329918 |
Chilblain Lupus |
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Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Recurrent respiratory infections, Perianal abscess, Leukocytosis, Increased circulating IgE level... |
OMIM:618213 |
Pneumocystosis |
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Abnormal neutrophil count, Weight loss, Increased circulating antibody level, Chronic oral candid... |
ORPHA:723 |
Congenital Disorder Of Glycosylation, Type Ig |
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Failure to thrive, Small for gestational age, Patent ductus arteriosus, Recurrent upper respirato... |
OMIM:607143 |
Alg12-Cdg |
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Recurrent respiratory infections, Recurrent ear infections, Abnormal circulating IgA level, Parti... |
ORPHA:79324 |
Boutonneuse Fever |
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Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Increased circulating... |
ORPHA:83313 |
O'Sullivan-Mcleod Syndrome |
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Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Immunodeficiency 68 |
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Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cel... |
OMIM:612260 |
Interstitial Lung Disease 2 |
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Increased circulating antibody level |
OMIM:178500 |
Bloom Syndrome |
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Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf... |
ORPHA:125 |
Peeling Skin Syndrome 1 |
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Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
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Increased circulating IgE level |
ORPHA:1858 |
Osteopetrosis, Autosomal Recessive 7 |
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Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circulating IgG lev... |
OMIM:612301 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
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Recurrent respiratory infections, Pancytopenia, Failure to thrive in infancy, Hypersplenism, Sple... |
OMIM:613385 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
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Increased circulating IgE level |
ORPHA:89843 |
Caffey Disease |
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Increased circulating antibody level |
ORPHA:1310 |
Mevalonic Aciduria |
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Normocytic hypoplastic anemia, Failure to thrive in infancy, Fluctuating splenomegaly, Increased ... |
OMIM:610377 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Failure to thrive, Increased circulating IgE level |
OMIM:614328 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Weight loss |
ORPHA:2902 |
Smith-Kingsmore Syndrome |
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Large for gestational age, Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Recurrent infections... |
OMIM:619381 |
Riddle Syndrome |
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Generalized lymphadenopathy, Recurrent viral infections, Recurrent pneumonia, Weight loss, Decrea... |
ORPHA:420741 |
Papa Syndrome |
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Increased circulating antibody level, Lymphadenopathy |
ORPHA:69126 |
Congenital Analbuminemia |
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Small for gestational age, Recurrent lower respiratory tract infections, Increased circulating an... |
ORPHA:86816 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Splenomegaly, Recurrent pneumonia, Recurrent infections, Failure to thrive, Decreased circulating... |
OMIM:613327 |
Ebola Hemorrhagic Fever |
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Sepsis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Adult-Onset Nemaline Myopathy |
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Paraproteinemia |
ORPHA:171442 |
Rasmussen Subacute Encephalitis |
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Decreased circulating total IgA |
ORPHA:1929 |
Bloom Syndrome |
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Small for gestational age, Elevated hemoglobin A1c, Recurrent upper respiratory tract infections,... |
OMIM:210900 |
Netherton Syndrome |
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Recurrent respiratory infections, Decreased circulating antibody level, Increased circulating IgE... |
ORPHA:634 |
Mucopolysaccharidosis-Plus Syndrome |
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Recurrent respiratory infections, Recurrent bronchopulmonary infections, Patent ductus arteriosus... |
OMIM:617303 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
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Increased circulating antibody level |
OMIM:114065 |
Subacute Inflammatory Demyelinating Polyneuropathy |
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Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Celiac Disease, Susceptibility To, 1 |
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Macrocytic anemia, Weight loss, Iron deficiency anemia, Thrombocytosis, Failure to thrive, Decrea... |
OMIM:212750 |
Tempi Syndrome |
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Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Patent ductus arterios... |
OMIM:620005 |
Mogs-Cdg |
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Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea... |
ORPHA:79330 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
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Large for gestational age, Decreased circulating IgA level |
ORPHA:457485 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Recurrent respiratory infections, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cach... |
ORPHA:37042 |
Pyoderma Gangrenosum |
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Myeloid leukemia, Increased circulating antibody level |
ORPHA:48104 |
Urban-Rogers-Meyer Syndrome |
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Increased circulating IgE level, Obesity |
ORPHA:3409 |
Inflammatory Pseudotumor Of The Liver |
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Increased hepatitis B virus antibody level, Weight loss |
ORPHA:90003 |
Secondary Intestinal Lymphangiectasia |
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Decreased circulating IgG1 level, Decreased circulating antibody level, Recurrent infections, Dec... |
ORPHA:90363 |
Autosomal Dominant Hyper-Ige Syndrome |
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Recurrent respiratory infections, Increased circulating IgE level, Eosinophilia, Recurrent infect... |
ORPHA:2314 |
Cystic Echinococcosis |
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Abscess, Eosinophilia, Weight loss, Increased circulating antibody level, Splenic cyst, Peritonea... |
ORPHA:400 |
Congenital Disorder Of Glycosylation, Type Iib |
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Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
Gaucher Disease Type 1 |
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Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating an... |
ORPHA:77259 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
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Recurrent respiratory infections, Failure to thrive, Increased circulating IgE level |
OMIM:615508 |
Igg4-Related Submandibular Gland Disease |
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Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Lymphadenopathy,... |
ORPHA:449432 |
Subcorneal Pustular Dermatosis |
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Increased circulating antibody level |
ORPHA:48377 |
Lassa Fever |
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Increased circulating IgM level, Sepsis |
ORPHA:99824 |
Congenital Disorder Of Glycosylation, Type Ia |
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Thrombocytosis, Failure to thrive, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:212065 |
Encephalitis Lethargica |
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Increased circulating antibody level, Recurrent viral infections |
ORPHA:83600 |
Zika Virus Disease |
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Increased circulating IgM level, Thrombocytopenia |
ORPHA:448237 |
Poems Syndrome |
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Lymphadenopathy, Weight loss, Increased circulating antibody level, Thrombocytosis, Polycythemia |
ORPHA:2905 |
Okur-Chung Neurodevelopmental Syndrome |
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Failure to thrive, Decreased circulating IgG level, Decreased circulating IgA level, Decreased ci... |
OMIM:617062 |
Autoimmune Hepatitis |
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Splenomegaly, Increased circulating IgG level, Increased circulating antibody level |
ORPHA:2137 |
Monosomy 18Q |
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Patent ductus arteriosus, Failure to thrive, Slender build, Decreased circulating IgA level |
ORPHA:1600 |
Lead Poisoning |
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Small for gestational age, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abno... |
ORPHA:330015 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Recurrent respiratory infections, Thrombocytopenia, Patent ductus arteriosus, Sepsis, Hepatosplen... |
ORPHA:505248 |
Q Fever |
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Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Weight loss, Granuloma, Incr... |
ORPHA:781 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Recur... |
ORPHA:508533 |
Hypotrichosis Simplex Of The Scalp |
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Increased circulating IgE level |
ORPHA:90368 |
Alveolar Echinococcosis |
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Liver abscess, Eosinophilia, Weight loss, Abnormal spleen morphology, Increased circulating antib... |
ORPHA:284 |
Dubowitz Syndrome |
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Aplastic anemia, Recurrent infections, Acute lymphoblastic leukemia, Decreased circulating IgG le... |
OMIM:223370 |
Gaucher Disease Type 3 |
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Recurrent respiratory infections, Pancytopenia, Splenomegaly, Anemia, Increased circulating antib... |
ORPHA:77261 |
Aspergillosis |
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Increased circulating IgE level, Eosinophilia, Neutropenia |
ORPHA:1163 |
Brucellosis |
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Liver abscess, Small for gestational age, Lung abscess, Hypersplenism, Splenomegaly, Leukocytosis... |
ORPHA:1304 |
Aicardi-Goutieres Syndrome 7 |
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Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Thrombocytopenia, Weig... |
OMIM:615846 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Decreased circulating total IgM, Patent ductus arteriosus, Obesity, Decreased circulating IgA level |
ORPHA:369837 |
Lysinuric Protein Intolerance |
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Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Recurrent bacterial i... |
ORPHA:470 |
Al Amyloidosis |
|
Howell-Jolly bodies, Increased circulating antibody level, Anemia, Weight loss |
ORPHA:85443 |
Primary Sjögren Syndrome |
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Normocytic anemia, Lymphadenopathy, Decreased circulating antibody level, Leukopenia, Normochromi... |
ORPHA:289390 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Mediastinal lymphade... |
OMIM:181000 |
Primary Sclerosing Cholangitis |
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Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatosplen... |
ORPHA:171 |
Igg4-Related Kidney Disease |
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Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Increased circulating IgE level, W... |
ORPHA:449395 |
Scleromyxedema |
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Paraproteinemia |
ORPHA:167635 |
Tick-Borne Encephalitis |
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Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor... |
ORPHA:297 |
Japanese Encephalitis |
|
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level |
ORPHA:79139 |
Rift Valley Fever |
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Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Anemia |
ORPHA:319251 |
Aapoaiv Amyloidosis |
|
Paraproteinemia |
ORPHA:439232 |
Coccidioidomycosis |
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Abscess, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy, I... |
ORPHA:228123 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Increased circulating IgG level, Granuloma, Increased circulating IgM level |
ORPHA:562639 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
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Increased circulating antibody level |
OMIM:606002 |
Marburg Hemorrhagic Fever |
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Reticulocytosis, Lymphopenia, Neutrophilia in presence of infection, Lymphadenopathy, Leukopenia,... |
ORPHA:99826 |
Igg4-Related Ophthalmic Disease |
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Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level, Lymphadenopathy |
ORPHA:449563 |
Crimean-Congo Hemorrhagic Fever |
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Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating Ig... |
ORPHA:99827 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Renal tubular epithelial necrosis, Weight loss, Increased circulating IgG leve... |
ORPHA:91500 |
Trichinellosis |
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Increased circulating IgE level |
ORPHA:863 |
Gaucher Disease |
|
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia |
ORPHA:355 |
Cysticercosis |
|
Increased circulating antibody level |
ORPHA:1560 |
Viss Syndrome |
|
Patent ductus arteriosus, Increased circulating IgE level, Hypereosinophilia, Increased circulati... |
OMIM:619472 |
Yellow Fever |
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Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat... |
ORPHA:99829 |
Simpson-Golabi-Behmel Syndrome |
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Splenomegaly, Increased circulating IgE level, Polysplenia |
ORPHA:373 |