Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Severe varicella ... |
OMIM:615897 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
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Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... |
OMIM:618944 |
Immunodeficiency, Common Variable, 3 |
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Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... |
OMIM:613493 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Hepatomegaly, Recurrent infections, Splenomegaly, Lymphocytosis, Decreased circulating total IgM |
OMIM:606445 |
Lymphoid System Deterioration, Progressive |
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Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Agammaglobulinemia 3, Autosomal Recessive |
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Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... |
OMIM:613501 |
Immunodeficiency, Common Variable, 1 |
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Recurrent bacterial infections, B lymphocytopenia, Hepatomegaly, Decreased proportion of class-sw... |
OMIM:607594 |
Severe Combined Immunodeficiency, X-Linked |
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Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Dec... |
OMIM:300400 |
Caspase 8 Deficiency |
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Recurrent herpes, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG lev... |
OMIM:607271 |
Immunodeficiency 50 |
|
Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Lymphopeni... |
OMIM:300988 |
Agammaglobulinemia 8, Autosomal Dominant |
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B lymphocytopenia, Agammaglobulinemia, Recurrent infections, Recurrent otitis media |
OMIM:616941 |
Immunodeficiency 14A, Autosomal Dominant |
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Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... |
OMIM:615513 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
Cernunnos-Xlf Deficiency |
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Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... |
ORPHA:169079 |
Immunodeficiency 18 |
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Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... |
OMIM:615615 |
Immunodeficiency, Common Variable, 4 |
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Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... |
OMIM:613494 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
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Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
Immunodeficiency 14B, Autosomal Recessive |
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Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... |
OMIM:619281 |
Agammaglobulinemia 2, Autosomal Recessive |
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Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... |
OMIM:613500 |
Agammaglobulinemia 7, Autosomal Recessive |
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Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections |
OMIM:615214 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Decreased circulati... |
OMIM:606843 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... |
OMIM:617765 |
Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lower respirator... |
ORPHA:331206 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... |
OMIM:618969 |
Agammaglobulinemia 4, Autosomal Recessive |
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Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Recurren... |
OMIM:613502 |
Histiocytosis, Familial Lipochrome |
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Increased alpha-globulin, Increased circulating antibody level, Recurrent infections, Histiocytosis |
OMIM:235900 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Decreased circ... |
OMIM:605258 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... |
OMIM:616873 |
Lymphoproliferative Syndrome 3 |
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Severe varicella zoster infection, Lymphadenopathy, Decreased circulating antibody level, Recurre... |
OMIM:618261 |
Lymphoma, Hodgkin, Classic |
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Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Mediastinal lymph... |
OMIM:300853 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... |
OMIM:619510 |
Immunoerythromyeloid Hypoplasia |
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Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Immunodeficiency 52 |
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Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, D... |
OMIM:617514 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
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Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections |
OMIM:616911 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Recurrent sinopulmonary infections, Abnormal lymphocyte morpholo... |
OMIM:609529 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level, BCGitis |
OMIM:619549 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Lymp... |
OMIM:618982 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... |
OMIM:611926 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Decreased cir... |
OMIM:601495 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia |
OMIM:200900 |
Immunodeficiency 11 |
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Recurrent respiratory infections, Decreased circulating antibody level |
OMIM:615206 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... |
ORPHA:276 |
Immunodeficiency 61 |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent respiratory... |
OMIM:300310 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... |
OMIM:202700 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... |
OMIM:310350 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased circulating IgG le... |
OMIM:618394 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... |
OMIM:308220 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Defective T cell proliferation, Increased ci... |
OMIM:618534 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Decreased circulating IgA level, Lymphadenopathy, Decreased circu... |
OMIM:608106 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Recurrent uppe... |
ORPHA:70593 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Sepsis, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG... |
OMIM:616100 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent respiratory infections, Decreased circulating antibody level, Recurrent infections |
OMIM:617744 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... |
ORPHA:35078 |
Immunodeficiency 37 |
|
Infectious encephalitis, Decreased circulating antibody level, Decreased proportion of central me... |
OMIM:616098 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... |
OMIM:300636 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in presence of anti-neutropil... |
ORPHA:572 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... |
OMIM:312863 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... |
OMIM:614868 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Immunodeficiency 48 |
|
Hepatomegaly, Panhypogammaglobulinemia, Recurrent candida infections, Splenomegaly |
OMIM:269840 |
Whim Syndrome 1 |
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Recurrent bacterial infections, Neutropenia, Decreased circulating IgG level, Decreased circulati... |
OMIM:193670 |
Immunoglobulin M, Level Of |
|
Meningitis, Decreased circulating total IgM |
OMIM:308250 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... |
ORPHA:2643 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Hepatomegaly, Decreased circulating IgA level,... |
OMIM:102700 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... |
ORPHA:2688 |
Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... |
OMIM:611521 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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B lymphocytopenia, Recurrent opportunistic infections, Failure to thrive secondary to recurrent i... |
OMIM:601457 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Lymphadenopathy, Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsi... |
OMIM:615559 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, B lymphocytopenia, Lack of T cell function, Recurrent opportunistic infections, R... |
ORPHA:277 |
Selective Igm Deficiency |
|
Sepsis, Severe varicella zoster infection, Recurrent herpes, Neutropenia in presence of anti-neut... |
ORPHA:331235 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Decreased circulating IgG le... |
OMIM:308240 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, B lymphocytopenia, Splenomegaly, Perianal abscess, Persistent EBV... |
OMIM:619437 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Hepatomegaly, Impaired T cell function, Decreased circulating IgA... |
OMIM:240500 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... |
OMIM:612692 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... |
OMIM:251190 |
Immunodeficiency 15A |
|
Recurrent otitis media, Chronic mucocutaneous candidiasis, Decreased proportion of CD4-positive h... |
OMIM:618204 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... |
ORPHA:275 |
Immunodeficiency 25 |
|
Recurrent herpes, Complete or near-complete absence of specific antibody response to tetanus vacc... |
OMIM:610163 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... |
ORPHA:70592 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Recurrent herpes, Failure to thrive secondary to recurrent infec... |
ORPHA:169160 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Cholangitis, Recurrent viral infections, Fulminant hepatitis, Dec... |
OMIM:242850 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... |
OMIM:615767 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... |
OMIM:616022 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Neutropenia, Recurrent protozoan... |
OMIM:209920 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 46 |
|
Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circ... |
OMIM:616740 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... |
OMIM:613101 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Abnormal lymphatic vessel morphology, Decreased circulating IgA level, Decreased... |
ORPHA:90362 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Sepsis, Severe varicella zoster infection, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocyt... |
OMIM:618986 |
Immunodeficiency 36 |
|
Recurrent bacterial infections, Chronic lymphatic leukemia, Decreased circulating antibody level,... |
OMIM:616005 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Glomeru... |
OMIM:613496 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating... |
ORPHA:100024 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, Recurrent viral infections, Onychomycosis, Increased circulating IgE level, Re... |
ORPHA:217390 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Neutropenia, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia, Enlarged to... |
OMIM:308230 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... |
OMIM:607624 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... |
OMIM:245480 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Sepsis, Decreased proportion of class-switched memory B c... |
OMIM:614700 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria... |
OMIM:618108 |
Complement Component 7 Deficiency |
|
Decreased serum complement C7, Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
X-Linked Lymphoproliferative Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... |
ORPHA:2442 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Decreased circulating antibody level, Recurrent infections, R... |
OMIM:616576 |
Complement Component 6 Deficiency |
|
Reduced hemolytic complement activity, Recurrent meningococcal disease, Decreased serum complemen... |
OMIM:612446 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Increased circ... |
OMIM:615285 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Recurrent viral upper respiratory tract infections, Decreased ci... |
OMIM:615577 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Recurrent infections,... |
OMIM:301045 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... |
OMIM:617006 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level, Recurrent infections |
OMIM:614102 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... |
ORPHA:2585 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Abs... |
OMIM:608957 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Sepsis, Severe varicella zoster infection, Lymphadenopathy, Decreased circulating a... |
OMIM:615122 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, B lymphocytopenia, Recurrent bacterial infections, Severe varicella zoster infe... |
OMIM:606367 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urinary tract infe... |
OMIM:618495 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Decreased circulating antibody level, Hepatitis, Recurrent infections, Splenomegaly... |
OMIM:300635 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Lymphadenitis, Histoplasmosis, Disseminated no... |
ORPHA:319552 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Decreased circulating antibody level, Re... |
OMIM:617780 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Recurrent infec... |
OMIM:614470 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Lymphadenopathy, Recurrent infections, Decreased proportion of CD3-positive T cells,... |
ORPHA:169154 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Lymphadenopathy, Hepatitis, Anemi... |
ORPHA:158061 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
Candidiasis, Familial, 2 |
|
Lymphadenopathy, Chronic oral candidiasis, Decreased serum iron, Onychomycosis, Chronic tinea inf... |
OMIM:212050 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections |
OMIM:146830 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Decreased circulating antibody level, Recurrent infections, Splenomegaly, Lymphopenia |
OMIM:605309 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Recurrent otitis me... |
OMIM:600802 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent staphylococcal infections, Transient neutropenia, Recu... |
OMIM:607676 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating... |
OMIM:613011 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Mannose-Binding Lectin Deficiency |
|
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent herpes, Recurr... |
OMIM:614372 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Cholangitis, Sepsis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ... |
ORPHA:183675 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Neutropenia |
OMIM:300299 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Autoimmune thr... |
OMIM:608184 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Decreased serum complement C8, Recurrent Neisserial infections |
OMIM:613789 |
Complement Factor D Deficiency |
|
Complement deficiency, Recurrent bacterial infections |
OMIM:613912 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Recurrent respiratory infections, Recurrent infection of the gas... |
OMIM:137100 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Reticular Dysgenesis |
|
Sepsis, Leukopenia, Decreased circulating antibody level, Anemia, Aplasia/Hypoplasia of the thymu... |
ORPHA:33355 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Immunodeficiency 51 |
|
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... |
OMIM:613953 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating total IgA, Decreased spe... |
ORPHA:221139 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Increased circulating Ig... |
OMIM:617241 |
Wiskott-Aldrich Syndrome |
|
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent herpes, Decreased c... |
OMIM:301000 |
Thymic Aplasia |
|
Sepsis, Lymphadenopathy, Recurrent infections, Recurrent candida infections, Oligoclonal T cell e... |
ORPHA:83471 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level, Recurrent respiratory infections |
OMIM:137050 |
Omenn Syndrome |
|
Recurrent bacterial infections, B lymphocytopenia, Hypoproteinemia, Hepatomegaly, Lymphadenopathy... |
OMIM:603554 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropen... |
ORPHA:540 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Recurrent infections, Decreased circulating total IgM, Bronchiol... |
OMIM:614878 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:275350 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... |
ORPHA:911 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
Nephronophthisis 16 |
|
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney |
OMIM:615382 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Decreased circulating antibody level, Lymphopenia |
ORPHA:1116 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent bacterial infections, Hypouricemia, Recurrent opportunistic infections, Neutropenia in ... |
OMIM:613179 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoderma, Absent ... |
OMIM:307200 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal serum interferon-gamma level, Hepatosplenomegaly, Abnormal serum interleukin level, Panc... |
ORPHA:79124 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Recurrent infections |
OMIM:614069 |
Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... |
OMIM:602088 |
Immunodeficiency 47 |
|
Decreased circulating antibody level, Recurrent infections, Splenomegaly, Accessory spleen, Decre... |
OMIM:300972 |
Immunodeficiency 13 |
|
B lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... |
OMIM:615518 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections, Decre... |
OMIM:614493 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Increased ... |
OMIM:209950 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... |
OMIM:147060 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
Bone Marrow Failure Syndrome 5 |
|
Decreased circulating antibody level, Anemia, Pure red cell aplasia |
OMIM:618165 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent sinopulmonary infections, ... |
OMIM:243700 |
Focal Segmental Glomerulosclerosis 7 |
|
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616002 |
Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Lymphadenopathy, Hepatosplenomegaly, Recur... |
OMIM:619126 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... |
OMIM:614172 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy, Recurrent mycobacterial infections |
OMIM:616126 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy, Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia, Recurrent bro... |
OMIM:619164 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:615592 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia, Hypocalcemia |
ORPHA:100025 |
Pgm3-Cdg |
|
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, ... |
ORPHA:443811 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... |
OMIM:300291 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating IgM level |
ORPHA:37748 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
Neurodegeneration, Infantile-Onset, Biotin-Responsive |
|
Decreased circulating IgG level |
OMIM:618973 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Acute Lung Injury |
|
Sepsis, Abnormality of serum cytokine level, Increased circulating surfactant protein level, Incr... |
ORPHA:178320 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic kidney dysplasia,... |
OMIM:263200 |
Aa Amyloidosis |
|
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Prote... |
ORPHA:85445 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
Bloom Syndrome |
|
Acute lymphoblastic leukemia, Severe varicella zoster infection, Severe toxoplasmosis, Abnormal p... |
ORPHA:125 |
Myotonic Dystrophy 2 |
|
Elevated circulating creatine kinase concentration, Decreased circulating IgG level, Decreased ci... |
OMIM:602668 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Decreased circulating IgG level, Neutropenia, Hypoalbuminemia |
OMIM:600351 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Decreased circulating ... |
ORPHA:90363 |
Hemophagocytic Syndrome Associated With An Infection |
|
Neutropenia, Splenomegaly, Increased circulating ferritin concentration, Pancytopenia, Hyperprote... |
ORPHA:158048 |
Lichtenstein Syndrome |
|
Decreased circulating IgA level, Recurrent respiratory infections, Neutropenia, Recurrent infections |
OMIM:246550 |
Bloom Syndrome |
|
Leukemia, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent upper respi... |
OMIM:210900 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Recurrent infections, Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Cholangitis, Recurrent otitis media, Recurrent... |
OMIM:615207 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level, Recurrent infections |
ORPHA:99811 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Chronic oral ca... |
OMIM:150550 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections |
OMIM:616910 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Hypocalcemic seizures, Decreased circulating IgA level, Decreased circulating IgG l... |
OMIM:612301 |
Immunodeficiency 23 |
|
Severe varicella zoster infection, Neutropenia, Abscess, Increased circulating IgG level, Chronic... |
OMIM:615816 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... |
OMIM:618806 |
Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Decreased circulating antibody level, Lymphopenia, Aplasia/Hypo... |
ORPHA:100 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... |
ORPHA:486 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Decreased circulating antibody level, Recurrent urinary tract infections, R... |
ORPHA:90045 |
Adult Acute Respiratory Distress Syndrome |
|
Sepsis, Increased circulating interleukin 6, Pancreatitis, Abnormal serum interleukin level, Abno... |
ORPHA:70578 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Cystic renal dysplasia, Hepatomegaly, Pulmonary hypoplasia, Enlarged kidney |
OMIM:615415 |
Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Increased circulating interleukin 6, Sterile abscess, A... |
ORPHA:3243 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Leukocytosis, Hepatomegaly, Sepsis, Anemia, Abnormality of the ly... |
OMIM:612840 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
Immunodeficiency 82 With Systemic Inflammation |
|
B lymphocytopenia, Decreased proportion of naive T cells, Elevated circulating C-reactive protein... |
OMIM:619381 |
Vici Syndrome |
|
Recurrent bacterial infections, Recurrent fungal infections, Decreased circulating IgG level, Cut... |
OMIM:242840 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... |
OMIM:617099 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Pancytopenia, Hepatomegaly, Panhypogammaglobulinemia, Recurrent infections |
ORPHA:251009 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... |
OMIM:143400 |
Icf Syndrome |
|
Decreased circulating antibody level, Anemia, Lymphopenia, Recurrent respiratory infections, Abno... |
ORPHA:2268 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Abnormality of interle... |
ORPHA:101096 |
X-Linked Immunoneurologic Disorder |
|
Recurrent respiratory infections, Decreased circulating IgG2 level |
ORPHA:2571 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Ficolin 3 Deficiency |
|
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... |
OMIM:613860 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections, Depletion of components of the alternative complement pathway, De... |
OMIM:609814 |
Immunodeficiency 59 And Hypoglycemia |
|
Herpes simplex encephalitis, Hepatomegaly, Sepsis, Decreased proportion of class-switched memory ... |
OMIM:233600 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Recurrent upper respiratory tract i... |
OMIM:602450 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Sepsis, Recurrent bronchitis, Recurrent viral infections, Decreased circulating ant... |
ORPHA:293978 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Decreased circulating IgG level, Decreased circulating antibody level, Decreased ly... |
ORPHA:508533 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Decreased circulating IgA level, Macronodular cirrhosis |
OMIM:215250 |
Roifman Syndrome |
|
Lymphadenopathy, Decreased circulating antibody level, Recurrent otitis media, Hepatosplenomegaly... |
ORPHA:353298 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia |
OMIM:615190 |
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating antibody level, Intraalveolar phospholipi... |
OMIM:618042 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... |
OMIM:233710 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased circulating antibody level, Recur... |
OMIM:615952 |
Good Syndrome |
|
Mediastinal lymphadenopathy, Decreased circulating antibody level, Anemia, Recurrent urinary trac... |
ORPHA:169105 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Specific Granule Deficiency 2 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Recurre... |
OMIM:617475 |
Autosomal Agammaglobulinemia |
|
Sepsis, Agammaglobulinemia, Neutropenia, Hepatitis, Recurrent infections, Meningitis, Recurrent r... |
ORPHA:33110 |
Mogs-Cdg |
|
Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circula... |
ORPHA:79330 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating IgG level, Recurrent respiratory infections, Hypoalbuminemia |
OMIM:241600 |
X-Linked Agammaglobulinemia |
|
Sepsis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Abnormality of th... |
ORPHA:47 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... |
OMIM:233690 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Lambert Syndrome |
|
Jaundice, Decreased circulating antibody level, Cholestasis, Intrahepatic biliary atresia |
ORPHA:1296 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Reduced natural killer cell count, T lymphocytopenia, Increased ... |
OMIM:242860 |
Immunodeficiency 68 |
|
B lymphocytopenia, Sepsis, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cel... |
OMIM:612260 |
Griscelli Syndrome |
|
Hepatomegaly, Leukopenia, Abnormal circulating lipid concentration, Lymphadenopathy, Decreased ci... |
ORPHA:381 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Hypoproteinemia, Hepatomegaly, Iron deficiency anemia, Decreased circulating anti... |
OMIM:226300 |
Autosomal Dominant Polycystic Kidney Disease |
|
Decreased glomerular filtration rate, Hematuria, Renal cyst, Pyelonephritis, Nephrolithiasis, Sta... |
ORPHA:730 |
Whim Syndrome |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Lymphadenitis, Decreased circulating antibod... |
ORPHA:51636 |
Boutonneuse Fever |
|
Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ce... |
ORPHA:83313 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T ... |
ORPHA:231154 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent bacterial infections, Hepatomegaly, Neutropenia, Enlarged platelet dense granules, Redu... |
OMIM:608233 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Decreased serum complement C3 |
OMIM:613779 |
Ataxia-Telangiectasia |
|
Recurrent bronchitis, Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Decrea... |
OMIM:208900 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent bacterial infections, Hepatomegaly, Sepsis, Lymphadenopathy, Recurrent fungal infection... |
ORPHA:169090 |
Cystic Fibrosis |
|
Hepatomegaly, Decreased circulating antibody level, Exocrine pancreatic insufficiency, Recurrent ... |
ORPHA:586 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia, Recurrent in... |
OMIM:256500 |
Alopecia Antibody Deficiency |
|
Recurrent respiratory infections, Decreased circulating antibody level |
ORPHA:1006 |
Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent viral infections, Gen... |
ORPHA:420741 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Peritonitis, Decreased serum complement factor B, Meningitis, Rec... |
OMIM:615561 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Lymphadenopathy, Recurrent infections, Thrombocytopenia, Autoimmu... |
OMIM:612783 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Hepatic cysts, Decreased circulating antibody level, Recurrent infections, Lymphopenia, Eosinophilia |
OMIM:617425 |
Common Variable Immunodeficiency |
|
Recurrent bronchitis, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Abnorm... |
ORPHA:1572 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia... |
OMIM:603585 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Anemia, Abnormality of the pancreas, Lymphopenia, Recurrent respiratory infec... |
ORPHA:935 |
Chédiak-Higashi Syndrome |
|
Neutropenia, Abnormal platelet function, Lymphadenopathy, Recurrent infections, Splenomegaly, Inc... |
ORPHA:167 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent bacterial infections, Hepatomegaly, Sepsis, Neutropenia, Leukopenia, Monocytosis, Hypop... |
OMIM:612541 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... |
OMIM:616084 |
Immunodeficiency 58 |
|
Decreased specific antibody response to vaccination, Helicobacter pylori infection, Recurrent cut... |
OMIM:618131 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Decreased circulating IgG level, Neutropenia, Recurrent infections |
OMIM:608809 |
Popov-Chang syndrome |
|
Decreased circulating antibody level, Lymphopenia, Recurrent otitis media |
OMIM:618428 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
OMIM:617062 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Sepsis, Neutropenia, Leukopenia, Recurrent bronchopulmonary infections, Anemia, Bon... |
OMIM:617303 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Hepatomegaly, Vacuolated lymphocytes, Decreased circulating antib... |
OMIM:248500 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Enteroviral dermato... |
OMIM:300755 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal dysplasia, Polycystic kidney dysplasia, Ureteral atresia, Pulmonary hypoplasi... |
OMIM:208540 |
Nijmegen Breakage Syndrome |
|
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Recurrent bronchitis, Recur... |
OMIM:251260 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent bacterial infections, Leukocytosis, Recurrent staphylococcal infections, Rectal abscess... |
OMIM:116920 |
Lymphoid Interstitial Pneumonia |
|
Subpleural interstitial thickening, Hepatomegaly, Bronchiectasis, Respiratory tract infection, Mu... |
ORPHA:79128 |
Diaphanospondylodysostosis |
|
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Pulmonary hypoplasia, Enlarged kidney |
OMIM:608022 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil... |
OMIM:214500 |
Immunodeficiency 87 And Autoimmunity |
|
Sepsis, Elevated circulating C-reactive protein concentration, Hemolytic anemia, Persistent EBV v... |
OMIM:619573 |
Alg12-Cdg |
|
B lymphocytopenia, Hyponatremia, Sepsis, Recurrent ear infections, Partial absence of specific an... |
ORPHA:79324 |
Lysinuric Protein Intolerance |
|
Decreased circulating antibody level, Hyperglycinemia, Hyperammonemia, Increased circulating ferr... |
ORPHA:470 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Portal hypertension, Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lymphadenopathy, Dec... |
OMIM:615688 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Sepsis, Recurrent bacterial infections, Leukopenia, Anemia, Recurrent... |
OMIM:617053 |
Shwachman-Diamond Syndrome |
|
Sepsis, Neutropenia, Pancreatic hypoplasia, Leukemia, Pancytopenia, Bone marrow hypocellularity, ... |
ORPHA:811 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Decreased circulating antibody level, Hyperammonemia, Hepatosplenomegaly, Hype... |
ORPHA:247598 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Ureteral duplication, Hydronephrosis, Cardiomegaly, Polycystic kidney dysplasia, Lo... |
OMIM:608836 |
Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Hepatomegaly, Extrapulmonary sequestrum, Pulmonary hypoplasia, Enlarged k... |
OMIM:200995 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Impaired T cell function, Elevated circulating creatine kinase concentration, Recur... |
OMIM:614576 |
Postinfectious Vasculitis |
|
Persistent human papillomavirus infection, Severe varicella zoster infection, Cryoglobulinemia, I... |
ORPHA:48435 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level, Recurrent respiratory infections |
DECIPHER:45 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
B lymphocytopenia, Hepatomegaly, Pancreatic hypoplasia, Cholelithiasis, Biliary hyperplasia, Seve... |
ORPHA:83617 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Decreased circulating antibody level, Recurrent infections |
OMIM:300953 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Abnormal lymphocyte proliferation, Leukemia, Decreased circulati... |
ORPHA:99867 |
Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Increased circulating IgA level, Lymphadenopathy, Elevated circu... |
ORPHA:29073 |
Thymic Tumor |
|
Dysgammaglobulinemia, Mediastinal lymphadenopathy, Neoplasm of the thymus |
ORPHA:100100 |
Ring Chromosome 21 Syndrome |
|
Decreased circulating antibody level |
ORPHA:1445 |
Sickle Cell Anemia |
|
Recurrent bacterial infections, Leukocytosis, Hepatomegaly, Cholelithiasis, Splenomegaly, Increas... |
OMIM:603903 |
Primary Biliary Cholangitis |
|
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Abnormal c... |
ORPHA:186 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney |
ORPHA:251004 |
Netherton Syndrome |
|
Increased circulating IgE level, Recurrent respiratory infections, Decreased circulating antibody... |
ORPHA:634 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating IgA level, Hypercalcemia, Hypertriglyceridemia, Decreased circulating total... |
ORPHA:369837 |
Complement Factor I Deficiency |
|
Decreased serum complement factor H, Recurrent otitis media, Decreased serum complement factor B,... |
OMIM:610984 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolit... |
OMIM:232200 |
Kenny-Caffey Syndrome, Type 1 |
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Hypomagnesemia, Recurrent bacterial infections, Anemia, Hypocalcemia |
OMIM:244460 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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B lymphocytopenia, Infectious encephalitis, Recurrent herpes, Neutropenia in presence of anti-neu... |
ORPHA:391487 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolit... |
OMIM:232220 |
Zika Virus Disease |
|
Thrombocytopenia, Infectious encephalitis, Increased circulating IgM level, Meningitis |
ORPHA:448237 |
Tick-Borne Encephalitis |
|
Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, M... |
ORPHA:297 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating IgG2 lev... |
ORPHA:1493 |
Igg4-Related Kidney Disease |
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Ureteral obstruction, Hydronephrosis, Tubulointerstitial nephritis, Urinary bladder inflammation,... |
ORPHA:449395 |
Cowden Syndrome 1 |
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Decreased circulating antibody level, Recurrent infections, Lymphopenia |
OMIM:158350 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
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Leukemia, Elevated alpha-fetoprotein, Abnormality of the thymus, Decreased circulating IgA level |
OMIM:208910 |
Tyrosinemia, Type I |
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Hepatomegaly, Renal Fanconi syndrome, Nephrocalcinosis, Glomerular sclerosis, Splenomegaly, Renal... |
OMIM:276700 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Chronic lymphatic leukemia, Monoclonal immunoglobulin M proteinemia, Complement ... |
ORPHA:91139 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Kaposiform Lymphangiomatosis |
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Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Abnormal lung morphology, Pleural effusio... |
ORPHA:464329 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy, Recurrent mycobacterial infections |
OMIM:615978 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Thrombocytopenia |
OMIM:616638 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Micropenis, Hyperechogenic kidneys, Microphallus, Enlarged kidney |
OMIM:612651 |
Hypocomplementemic Urticarial Vasculitis |
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Recurrent bacterial infections, Hepatomegaly, Lymphadenopathy, Splenomegaly, Complement deficienc... |
ORPHA:36412 |
Mgat2-Cdg |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Decr... |
ORPHA:79329 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
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Hepatomegaly, Decreased circulating IgA level, Hepatitis, Splenomegaly, Hypersplenism, Pancytopen... |
OMIM:613385 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Decreased circulating antibody l... |
ORPHA:227990 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Sepsis, Leukopenia, Decreased circulating IgG level, Anemia, Bone marrow hypocellularity, Hepatos... |
ORPHA:505248 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Hyperb... |
ORPHA:562639 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Hepatomegaly, Decreased circulating IgA level, Elevated circulating creatine kinase concentration... |
OMIM:613327 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Decreased circulating antibody level |
OMIM:606056 |
Congenital Disorder Of Glycosylation, Type Ig |
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Recurrent respiratory infections, Decreased circulating antibody level, Hypocalcemia |
OMIM:607143 |
Lassa Fever |
|
Sepsis, Increased circulating IgM level, Jaundice |
ORPHA:99824 |
Leukocyte Adhesion Deficiency |
|
Recurrent bacterial infections, Leukocytosis, Thrombocytosis, Sepsis, BCGosis, Peritonitis, Polyc... |
ORPHA:2968 |
H Syndrome |
|
Bronchiectasis, Hepatosplenomegaly, Micropenis, Recurrent pharyngitis, Abnormality of the kidney,... |
ORPHA:168569 |
Beckwith-Wiedemann Syndrome |
|
Renal cortical cysts, Hepatomegaly, Nephrocalcinosis, Cardiomegaly, Nephrolithiasis, Pancreatic h... |
OMIM:130650 |
Leukocyte Adhesion Deficiency Type Ii |
|
Leukocytosis, Abnormal isohemagglutinin level, Hepatomegaly, Chronic lymphocytic meningitis, Recu... |
ORPHA:99843 |
Meacham Syndrome |
|
Horseshoe kidney, Cardiac total anomalous pulmonary venous connection, Enlarged kidney, Partial a... |
OMIM:608978 |
Syndromic Diarrhea |
|
Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet volume, Hepatomegaly, He... |
ORPHA:84064 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Elevated circulating cr... |
ORPHA:542323 |
Autosomal Recessive Polycystic Kidney Disease |
|
Stage 5 chronic kidney disease, Splenomegaly, Recurrent urinary tract infections, Hepatosplenomeg... |
ORPHA:731 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Decreased circulating antibody l... |
ORPHA:227982 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:613091 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Hepatomegaly, Hepatic fibrosis, Decreased circulating IgA level, Hypocholesterole... |
OMIM:212065 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Sepsis, Decreased circulating antibody level, Anemia, Recurrent infections, Hypoalbuminemia |
ORPHA:79396 |
Yellow Fever |
|
Leukocytosis, Increased circulating interleukin 6, Elevated circulating creatine kinase concentra... |
ORPHA:99829 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Recurrent lower ... |
ORPHA:508542 |
Rift Valley Fever |
|
Infectious encephalitis, Hepatitis, Anemia, Increased circulating IgG level, Severe viral infecti... |
ORPHA:319251 |
Primary Sjögren Syndrome |
|
Chronic active hepatitis, Normocytic anemia, Leukopenia, Cryoglobulinemia, Lymphadenopathy, Chron... |
ORPHA:289390 |
Alg9-Cdg |
|
Hepatomegaly, Hydronephrosis, Abnormal lung lobation, Abnormal renal artery morphology, Hypoplasi... |
ORPHA:79328 |
Say-Barber-Miller Syndrome |
|
Abnormal T cell morphology, Transient hypogammaglobulinemia of infancy, Decreased circulating IgG... |
ORPHA:3132 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:241410 |
Brucellosis |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Infectious encephalitis, Lung abscess, Leukopenia, Ly... |
ORPHA:1304 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Hennekam Syndrome |
|
Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Decreased circulating antibody level, ... |
ORPHA:2136 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Decreased circulating antibody level, Hypocalcemia, Hypomagnesemia, Hypertriglyceri... |
OMIM:618183 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia |
ORPHA:52368 |
Complement Component 5 Deficiency |
|
Reduced hemolytic complement activity, Decreased serum complement C5, Recurrent meningococcal dis... |
OMIM:609536 |
Coccidioidomycosis |
|
Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymphadenopathy, Abscess, In... |
ORPHA:228123 |
Wolfram Syndrome 2 |
|
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation |
OMIM:604928 |
Japanese Encephalitis |
|
Hyponatremia, Infectious encephalitis, Neutrophilia, Increased circulating antibody level, Mening... |
ORPHA:79139 |
Primary Ciliary Dyskinesia |
|
Asplenia, Recurrent sinopulmonary infections, Recurrent otitis media, Recurrent mycobacterial inf... |
ORPHA:244 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Decreased circulating IgA level, Hypoc... |
OMIM:212750 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Nephrocalcinosis, Tubulointerstitial fibrosis, Nephrolithiasis, Stage 5 chronic kid... |
ORPHA:79259 |
Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Decreased circulating IgA level, Decreased circulating IgG level, R... |
OMIM:223370 |
Thrombocytopenia-Absent Radius Syndrome |
|
Leukocytosis, Pancreatic cysts, Decreased circulating antibody level, Anemia, Hepatosplenomegaly,... |
OMIM:274000 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Congenital megaureter, Cardiomegaly, Nephrolithiasis, Enlarge... |
ORPHA:116 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level |
ORPHA:457485 |
Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Bifid ureter, Multicystic kidney dysplasia, Nephroblastoma, Enlarged kidney |
ORPHA:500095 |
Trichothiodystrophy |
|
Neutropenia, Recurrent bronchopulmonary infections, Anemia, Recurrent infections, Panhypogammaglo... |
ORPHA:33364 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
Chromomycosis |
|
Recurrent bacterial infections, Lymphangiectasis |
ORPHA:182 |
Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level, Recurrent infections |
OMIM:601675 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Hepatocellular c... |
ORPHA:171 |
Leprechaunism |
|
Hepatomegaly, Long penis, Nephrocalcinosis, Enlarged ovaries, Hypercalciuria, Enlarged kidney |
ORPHA:508 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Neutropenia, Decreased circulating antibody level, Anemia, Abnormality of the pancr... |
ORPHA:175 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Crimean-Congo Hemorrhagic Fever |
|
Leukocytosis, Hepatomegaly, Leukopenia, Elevated circulating creatine kinase concentration, Lymph... |
ORPHA:99827 |
Distal Monosomy 19P13.3 |
|
Decreased circulating antibody level |
ORPHA:96129 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Aplasia/Hypoplasia of the thymus |
ORPHA:2176 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Lymphadenopathy, Retroperitoneal fibrosis, Increased circulating... |
ORPHA:79078 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Hepatomegaly, Hydronephrosis, Abnormal lung lobation, Right ventricular hypertrophy,... |
OMIM:312870 |
Monosomy 18Q |
|
Decreased circulating IgA level |
ORPHA:1600 |
Sponastrime Dysplasia |
|
Recurrent pneumonia, Decreased circulating antibody level, Neutropenia |
ORPHA:93357 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infections |
ORPHA:2273 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Abscess, Anemia, Tooth abscess, Recurrent Staphylococcus aureus infections, Abnormality of humora... |
ORPHA:642 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Secretory IgA deficiency, Decreased circulating IgG level, Recurrent infections, Absent gallbladder |
ORPHA:500150 |
Viss Syndrome |
|
Decreased circulating IgA level, Increased circulating IgE level, Hypereosinophilia, Increased ci... |
OMIM:619472 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Decreased circulating antibody level, Recurrent infections, Asplenia, Recurrent otitis media |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Decreased circulating antibody level, Recurrent infections, Asplenia, Recurrent otitis media |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Decreased circulating antibody level, Recurrent infections, Asplenia, Recurrent otitis media |
ORPHA:261552 |