B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... |
OMIM:606843 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Failure to thr... |
OMIM:607271 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Dec... |
OMIM:300400 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... |
OMIM:613493 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy, Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig cl... |
OMIM:608106 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... |
OMIM:617765 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Failure to thrive in infancy, Decreased circulating IgG level, Abnormally low ... |
OMIM:618987 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy, Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig cl... |
OMIM:605258 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... |
OMIM:619281 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... |
OMIM:611926 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Neutropenia, Chronic hepatitis, Sclerosing cholangitis, Decreased circulating IgA l... |
OMIM:308230 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Defective T cell proliferation, Lymphadenopa... |
OMIM:618534 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Lymphadenitis, Decreased circulating IgA level, Decreased ci... |
ORPHA:331206 |
Immunodeficiency 48 |
|
Failure to thrive, Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly |
OMIM:269840 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... |
OMIM:618969 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Decreased circulating IgA level, Decreased circulating IgG level, R... |
OMIM:619510 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased proportion of class-switched memory B cells, Increased circulating interleukin 6, Decre... |
OMIM:618944 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... |
OMIM:618394 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Lymphadenopathy, Decreased circulating IgA level, Decreas... |
OMIM:240500 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Increased proportion of memory T cells, Lymphadenopathy, Increased circul... |
OMIM:618982 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Abnormal lymphatic vessel morphology, Decreased circulating IgA level, Decreased... |
ORPHA:90362 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphadenopathy, Decreased circulating IgA level, Decreased circulating IgG level, ... |
OMIM:616100 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, D... |
OMIM:617514 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Hepatomegaly, Decreased circulating IgA level, Failure to thrive, Reduced red ... |
OMIM:102700 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Increased circula... |
OMIM:615285 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia |
OMIM:200900 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Agammaglobulinemia, Neutropenia |
OMIM:613501 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Neutropenia, Lymphopenia |
OMIM:300988 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... |
OMIM:613101 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Failure to thrive secondary to recurrent infections, Decreased c... |
ORPHA:169160 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Decre... |
ORPHA:276 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:616911 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia |
OMIM:616941 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Decreased circulating antibody level |
OMIM:617744 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Failure to thrive, Decreased cir... |
OMIM:275350 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, B lymphocytopenia, Failure to thrive in infancy, Lymphadenopathy, Decreased cir... |
OMIM:606367 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... |
ORPHA:169079 |
X-Linked Lymphoproliferative Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... |
ORPHA:2442 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Decreased circulating antibody level, Reduced natural killer cell count, Hepatos... |
OMIM:618261 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Decreased circulating IgA level, Small for gestational age, Macronodu... |
OMIM:215250 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Anemia, Splenomegaly, Increase... |
ORPHA:100024 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Failure to thrive |
OMIM:615592 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive ... |
ORPHA:35078 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Lymphadenopathy, Increased circulating IgA level, Failure to thrive, Decreased lymph... |
ORPHA:169154 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De... |
OMIM:614700 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Increased circulating IgE level, Decreased circulating IgG level, Decreased pr... |
OMIM:615767 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec... |
ORPHA:70593 |
Immunodeficiency 46 |
|
Neutropenia, Failure to thrive, Decreased circulating antibody level, Anemia, Intermittent thromb... |
OMIM:616740 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... |
OMIM:610163 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Failure to thrive, Failure to thrive secondary to recurrent infections, Panhyp... |
OMIM:601457 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Reduced natural killer cell activity, Fulminant hepat... |
OMIM:308240 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia, Hypocalcemia |
ORPHA:100025 |
Immunodeficiency 47 |
|
Decreased circulating antibody level, Splenomegaly, Accessory spleen, Decreased circulating total... |
OMIM:300972 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level |
OMIM:616873 |
Reticular Dysgenesis |
|
Leukopenia, Failure to thrive, Weight loss, Decreased circulating antibody level, Anemia, Aplasia... |
ORPHA:33355 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating... |
OMIM:613011 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
OMIM:617062 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... |
ORPHA:275 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... |
ORPHA:2585 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hepatitis, Decreased circulating antibody level, Splenomegaly, Increased circulatin... |
OMIM:300635 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Failure to thrive, Reduced natural killer cell count, Increased ... |
OMIM:242860 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Failure to thrive, Decreased circulating antibody level, Reduced natural kille... |
OMIM:618108 |
Bone Marrow Failure Syndrome 5 |
|
Decreased circulating antibody level, Anemia, Pure red cell aplasia |
OMIM:618165 |
Lichtenstein Syndrome |
|
Decreased circulating IgA level, Neutropenia |
OMIM:246550 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... |
OMIM:619632 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia |
OMIM:314000 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy, Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Lymphadenopathy, De... |
OMIM:300853 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... |
OMIM:312863 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
Ataxia-Telangiectasia |
|
Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defective B cell differentia... |
OMIM:208900 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:613500 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Agammaglobulinemia, Neutropenia, Failure to thrive, Decreased circulating anti... |
OMIM:601495 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, A... |
OMIM:614470 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Lymphad... |
OMIM:617099 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Obesity |
OMIM:605309 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level, Failure to thrive |
DECIPHER:45 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, B lymphocytopenia, Lack of T cell function, Failure to thrive, Abnormality of hum... |
ORPHA:277 |
Preeclampsia |
|
Small for gestational age, Elevated circulating creatinine concentration, Increased body mass ind... |
ORPHA:275555 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Increased circulating IgA level, Failure to thrive, Increased circulating IgG level... |
OMIM:617388 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... |
OMIM:617006 |
Immunodeficiency 61 |
|
Obesity, Agammaglobulinemia |
OMIM:300310 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Thrombocytopenia, Decreased serum creatinine, Microangiopathic hemolytic anemia |
ORPHA:54057 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... |
OMIM:202700 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu... |
ORPHA:572 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Decreased circulating antibody level, Ly... |
OMIM:617780 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Decreased circulating antibody level, Lymphopenia |
ORPHA:1116 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Hypocalcemic seizures, Decreased circulating IgA level, Decreased circulating IgG l... |
OMIM:612301 |
Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Lymphadenopathy, Increased circulating IgA level, Elevated circu... |
ORPHA:29073 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:613502 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Cutaneous anergy, ... |
OMIM:600802 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia |
OMIM:193670 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Decreased circulating IgA level, Elevated circulating creatine kinase concentration... |
OMIM:613327 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Leukemia, Elevated alpha-fetoprotein, Abnormality of the thymus, Decreased circulating IgA level |
OMIM:208910 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Decreased circulating IgG level, Neutropenia, Hypoalbuminemia |
OMIM:600351 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Hepatomegaly, Hepatic fibrosis, Decreased circulating IgA level, Hypocholesterole... |
OMIM:212065 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis, Cir... |
OMIM:607665 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Thrombocytopenia, Large for gestational age |
OMIM:616638 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Hepatic steatosis, De... |
OMIM:301045 |
Bloom Syndrome |
|
Small for gestational age, Leukemia, Decreased circulating IgA level, Decreased circulating IgG l... |
OMIM:210900 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Failure to thrive in infancy, Decreased circulating IgA level, Hepatitis, Splenomeg... |
OMIM:613385 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Decreased circulating total IgM |
OMIM:614878 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Absent tonsils, Lymph node hypoplasia, Failure to thrive, Aplasia of the thymus, Panhypogammaglob... |
OMIM:602450 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... |
OMIM:618986 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Decreased serum complement fac... |
OMIM:235400 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:615577 |
Lambert Syndrome |
|
Failure to thrive in infancy, Intrahepatic biliary atresia, Decreased circulating antibody level,... |
ORPHA:1296 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Decreased circulating IgA level, Failu... |
OMIM:212750 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Thrombocytopenia, Decreased circulating antibody level, Autoimmune hemolytic anemia |
OMIM:616576 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Decreased circulating IgA level, Reduced circulating transferrin conc... |
ORPHA:90363 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Decreased circulating total IgM |
OMIM:300636 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Leukopenia, Increased circulating IgA level, Failure to thrive, Paratracheal lymp... |
OMIM:615934 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci... |
ORPHA:221139 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612926 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Decreased lymphocyte prolife... |
OMIM:615122 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level, Small for gestational age |
OMIM:300076 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Decreased circulating antibody level, Hyperammonemia, Hepatosplenomegaly, Hype... |
ORPHA:247598 |
Neurodegeneration, Infantile-Onset, Biotin-Responsive |
|
Decreased circulating IgG level |
OMIM:618973 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropen... |
ORPHA:540 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Decreased serum complement C4, Elevated circulating creatinine concentration, Weigh... |
ORPHA:90060 |
Omenn Syndrome |
|
B lymphocytopenia, Hepatomegaly, Hypoproteinemia, Lymphadenopathy, Failure to thrive, Hypoplasia ... |
OMIM:603554 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Mogs-Cdg |
|
Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circula... |
ORPHA:79330 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Complement deficiency, Decreased serum complement C4, Elevated circulating creatinine concentrati... |
ORPHA:567544 |
Immunodeficiency 82 With Systemic Inflammation |
|
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Elevat... |
OMIM:619381 |
C3 Glomerulopathy |
|
Decreased serum complement C4, Elevated circulating creatinine concentration, Paraproteinemia, De... |
ORPHA:329918 |
X-Linked Agammaglobulinemia |
|
Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Failure to thrive, Abnorm... |
ORPHA:47 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Decreased specific pneumococcal antibody level, Complete or near-complete absence o... |
OMIM:613496 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level |
OMIM:614069 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... |
ORPHA:91547 |
Griscelli Syndrome |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Abnormal circulating lipid concentration, Hepatitis, B... |
ORPHA:381 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Decreased circulating antibody level, Lymphopenia, Splenomegaly |
OMIM:616005 |
Bloom Syndrome |
|
Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Small for gestational ... |
ORPHA:125 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating IgG level, Hypoalbuminemia |
OMIM:241600 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased serum creatinine, Decreased circulating renin level |
OMIM:300539 |
Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Weight loss, Generalized lympha... |
ORPHA:420741 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM |
ORPHA:2643 |
Hereditary Folate Malabsorption |
|
Failure to thrive, Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Thro... |
ORPHA:90045 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level, Large for gestational age |
ORPHA:457485 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Small for gestational age |
OMIM:616733 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Portal hypertension, Hepatomegaly, Failure to thrive in infancy, Absence of lymph node germinal c... |
ORPHA:79124 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Prolonged neonatal jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Elevated circulat... |
OMIM:274150 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Cholangitis, Decreased specific pneumococcal antibody level, Cholecystitis, Decreased circulating... |
ORPHA:183675 |
Ataxia-Telangiectasia |
|
Failure to thrive, Decreased circulating antibody level, Lymphopenia, Aplasia/Hypoplasia of the t... |
ORPHA:100 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Pancytopenia, Hepatomegaly, Panhypogammaglobulinemia, Failure to thrive |
ORPHA:251009 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Agammaglobulinemia, Neutropenia, Failure to thrive, Cutaneous anergy, Panhypogammagl... |
OMIM:209920 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... |
OMIM:616084 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM |
OMIM:251190 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Hepatomegaly, Hypoproteinemia, Iron deficiency anemia, Decreased circulating anti... |
OMIM:226300 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Coach Syndrome 2 |
|
Congenital hepatic fibrosis, Portal fibrosis, Hepatic fibrosis, Elevated circulating creatinine c... |
OMIM:619111 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616910 |
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia |
|
Decreased circulating antibody level, Intraalveolar phospholipid accumulation |
OMIM:618042 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... |
OMIM:300291 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:612692 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Decreased circulating IgA level, Hypertriglyceridemia, Decreased circulating total... |
ORPHA:369837 |
Good Syndrome |
|
Mediastinal lymphadenopathy, Decreased circulating antibody level, Anemia, Thymoma, Aplasia/Hypop... |
ORPHA:169105 |
Lysinuric Protein Intolerance |
|
Decreased circulating antibody level, Hyperglycinemia, Hyperammonemia, Increased circulating ferr... |
ORPHA:470 |
Thrombocytopenia 1 |
|
Decreased mean platelet volume, Increased circulating IgA level, Intermittent thrombocytopenia, I... |
OMIM:313900 |
Roifman Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly, Eosinophilia, Decreased circulating antibody level |
ORPHA:353298 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Elevated circulating crea... |
ORPHA:85450 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia |
OMIM:615190 |
Immune Deficiency Disease |
|
Cholangitis, Fulminant hepatitis, Decreased circulating total IgM |
OMIM:242850 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Hyponatremia, Unconjugated hyperbilirubinemia, Schistocytosis, Microangiopathic hem... |
ORPHA:90038 |
Common Variable Immunodeficiency |
|
Failure to thrive in infancy, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly... |
ORPHA:1572 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Abnormal lymphocyte proliferation, Leukemia, Weight loss, Decrea... |
ORPHA:99867 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Impaired T cell function, Elevated circulating creatine kinase concentration, Failu... |
OMIM:614576 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
Netherton Syndrome |
|
Failure to thrive, Increased circulating IgE level, Decreased circulating IgG level, Hypereosinop... |
OMIM:256500 |
Myotonic Dystrophy 2 |
|
Elevated circulating creatine kinase concentration, Decreased circulating IgG level, Decreased ci... |
OMIM:602668 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Leukopenia, Increased circulating IgA level, Abnormal circulating lip... |
ORPHA:2298 |
Dubowitz Syndrome |
|
Decreased circulating IgA level, Acute lymphoblastic leukemia, Aplastic anemia, Decreased circula... |
OMIM:223370 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased circulating antibody level, Hepat... |
OMIM:615952 |
Iga Pemphigus |
|
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Cutaneous... |
ORPHA:555905 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
Igg4-Related Kidney Disease |
|
Abnormality of mesentery morphology, Lymphadenopathy, Lymphadenitis, Retroperitoneal fibrosis, In... |
ORPHA:449395 |
Primary Biliary Cholangitis |
|
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Increased ... |
ORPHA:186 |
Icf Syndrome |
|
Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Lymphopenia |
ORPHA:2268 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... |
ORPHA:79126 |
Alg12-Cdg |
|
B lymphocytopenia, Hyponatremia, Partial absence of specific antibody response to Haemophilus inf... |
ORPHA:79324 |
Immunodeficiency 56 |
|
Cholangitis, Failure to thrive, Cirrhosis, Panhypogammaglobulinemia, Chronic hepatitis due to cry... |
OMIM:615207 |
Cystic Fibrosis |
|
Hepatomegaly, Biliary cirrhosis, Decreased circulating antibody level, Exocrine pancreatic insuff... |
ORPHA:586 |
Monosomy 18Q |
|
Decreased circulating IgA level, Slender build, Failure to thrive |
ORPHA:1600 |
Hyper-Igd Syndrome |
|
Leukocytosis, Lymphadenopathy, Lymphadenitis, Increased circulating IgA level, Splenomegaly, Neut... |
OMIM:260920 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Autosomal Agammaglobulinemia |
|
Failure to thrive, Agammaglobulinemia, Hepatitis, Neutropenia |
ORPHA:33110 |
Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M ... |
ORPHA:91139 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Iron deficiency anemia, Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased s... |
OMIM:618885 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Failure to thrive, Decreased circulating antibody level, Abnormal lymphocyte morpho... |
ORPHA:293978 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Failure to thrive, Decreased circulating IgG level, Neutropenia |
OMIM:608809 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration, Cryoglobulinemia |
OMIM:123550 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Elevated circulating cr... |
ORPHA:542323 |
Thymic Tumor |
|
Dysgammaglobulinemia, Mediastinal lymphadenopathy, Neoplasm of the thymus |
ORPHA:100100 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Elevated circulating C-reactive protein concentration... |
OMIM:615688 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Elevated circulating creatinine concentration |
OMIM:613095 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Decreased circulating antibody level, Small for gestational age, Hypocalcemia |
OMIM:607143 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Peritonitis, Elevated circulating creatine kinase concentr... |
ORPHA:36234 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Lymphadenopathy, Hepatomegaly, Increased circulating IgA level, Peritonitis |
ORPHA:343 |
Popov-Chang syndrome |
|
Failure to thrive, Decreased circulating antibody level, Lymphopenia |
OMIM:618428 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Elevated circulating creatinine concentration, Normochromic anemia, Nodular re... |
ORPHA:247691 |
Marburg Hemorrhagic Fever |
|
Hyperamylasemia, Leukopenia, Hypokalemia, Neutrophilia in presence of infection, Lymphadenopathy,... |
ORPHA:99826 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased circulating antibo... |
OMIM:233600 |
Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Paraproteinemia, Hyperlipidemia |
ORPHA:439232 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen |
ORPHA:230 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Anemia, Hyperuricemia |
OMIM:174000 |
Ring Chromosome 21 Syndrome |
|
Decreased circulating antibody level |
ORPHA:1445 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Hepatitis, Decreased circulating... |
ORPHA:227990 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Elevated circulating creatinine concentration |
OMIM:614376 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Anemia, Lymphopenia, Abnormality of the pancreas |
ORPHA:935 |
Vici Syndrome |
|
Failure to thrive, Cutaneous anergy, Decreased circulating IgG level, Decreased proportion of CD4... |
OMIM:242840 |
Nephronophthisis 2 |
|
Hyperkalemia, Elevated circulating creatinine concentration |
OMIM:602088 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased circulating interleukin 6, Lymph... |
OMIM:256040 |
Yellow Fever |
|
Leukocytosis, Increased circulating interleukin 6, Elevated circulating creatine kinase concentra... |
ORPHA:99829 |
Syndromic Diarrhea |
|
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Abnormality of iron homeostasis, He... |
ORPHA:84064 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Weight loss, Elevated circulating creatinine concentration, Increased blood ur... |
ORPHA:49041 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Decreased circulating antibody level, Hepatic cysts, Lymphopenia |
OMIM:617425 |
Selective Igm Deficiency |
|
Decreased specific antibody response to vaccination, Neutropenia in presence of anti-neutropil an... |
ORPHA:331235 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Decreased circulating antibody level, Hypocalcemia, Hypomagnesemia, Hypertriglyceri... |
OMIM:618183 |
Netherton Syndrome |
|
Increased circulating IgE level, Aminoaciduria, Decreased circulating antibody level |
ORPHA:634 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Hepatitis, Decreased circulating... |
ORPHA:227982 |
Postinfectious Vasculitis |
|
Cryoglobulinemia, Increased circulating IgA level, Weight loss, Elevated haptoglobin level, Incre... |
ORPHA:48435 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Decreased circulat... |
ORPHA:79329 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Failure to thrive, Decreased circulating antibody level, Anemia, Hypoalbuminemia |
ORPHA:79396 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Failure to thrive, Elevated circula... |
ORPHA:411634 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Decreased circulating IgG level, Decreased circulating antibody level, Decreased ly... |
ORPHA:508533 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Normocytic anemia, Normochromic anemia, Elevated circulating creatinine conce... |
ORPHA:91500 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Decreased circulating antibody level |
OMIM:606056 |
Mannosidosis, Alpha B, Lysosomal |
|
Vacuolated lymphocytes, Decreased circulating antibody level, Hepatomegaly, Splenomegaly |
OMIM:248500 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Leukocytosis, Increased circulating interleukin 6, Elevated circulating creatinine ... |
ORPHA:340 |
Immunodeficiency 58 |
|
Decreased specific antibody response to vaccination, Recurrent cutaneous abscess formation, Failu... |
OMIM:618131 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Lymphadenopathy, Increased circulating IgA level, Retroperitoneal fibrosis, Weight loss, Increase... |
ORPHA:79078 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Decreased circulating antibody level |
OMIM:300953 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral hepatitis, Panhypogammaglobulinemia, Absent circulating B cells |
OMIM:307200 |
Primary Sjögren Syndrome |
|
Chronic active hepatitis, Normocytic anemia, Leukopenia, Cryoglobulinemia, Lymphadenopathy, Chron... |
ORPHA:289390 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration, Small for gestational age |
ORPHA:2260 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Decreased circulating IgG level, Anemia, Bone marrow hypocellularity, Hepatosplenomeg... |
ORPHA:505248 |
Viss Syndrome |
|
Decreased circulating IgA level, Failure to thrive, Increased circulating IgG level, Increased ci... |
OMIM:619472 |
Nijmegen Breakage Syndrome |
|
B lymphocytopenia, Dysgammaglobulinemia, Thrombocytopenia, T lymphocytopenia, Autoimmune hemolyti... |
OMIM:251260 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration, Hepatic cysts, Pancreatic cysts, Polycystic liver ... |
ORPHA:730 |
Whim Syndrome |
|
Neutropenia, Lymphadenitis, Decreased circulating antibody level, Lymphopenia, Abnormality of neu... |
ORPHA:51636 |
Vici Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgG2 level |
ORPHA:1493 |
Leukocyte Adhesion Deficiency Type Ii |
|
Leukocytosis, Hepatomegaly, Abnormal isohemagglutinin level, Small for gestational age, Failure t... |
ORPHA:99843 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Neutropenia, Failure to thrive, Decreased circulating antibody level, Anemia, Abnor... |
ORPHA:175 |
Hennekam Syndrome |
|
Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Decreased circulating antibody level, ... |
ORPHA:2136 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia |
ORPHA:52368 |
Cowden Syndrome 1 |
|
Decreased circulating antibody level, Lymphopenia |
OMIM:158350 |
Thrombocytopenia-Absent Radius Syndrome |
|
Leukocytosis, Pancreatic cysts, Decreased circulating antibody level, Anemia, Hepatosplenomegaly,... |
OMIM:274000 |
Say-Barber-Miller Syndrome |
|
Abnormal T cell morphology, Transient hypogammaglobulinemia of infancy, Decreased circulating IgG... |
ORPHA:3132 |
Wolfram Syndrome 2 |
|
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation |
OMIM:604928 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Agammaglobulinemia, Lymph node hypoplasia |
OMIM:300755 |
Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level, Small for gestational age |
OMIM:601675 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Elevated circulating creatinine concentration, Hyperuricemia, Exocrine pan... |
OMIM:137920 |
Trichothiodystrophy |
|
Anemia, Panhypogammaglobulinemia, Neutropenia, Increased mean corpuscular hemoglobin concentration |
ORPHA:33364 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Hepatic fibrosis, Congenital hepatic fibrosis, Bile duct proliferation, Elevated ci... |
OMIM:619534 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
B lymphocytopenia, Hepatomegaly, Pancreatic hypoplasia, Failure to thrive, Cholelithiasis, Biliar... |
ORPHA:83617 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration, Pancreatitis |
ORPHA:93126 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Distal Monosomy 19P13.3 |
|
Decreased circulating antibody level |
ORPHA:96129 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Sponastrime Dysplasia |
|
Decreased circulating antibody level, Neutropenia, Small for gestational age |
ORPHA:93357 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Secretory IgA deficiency, Decreased circulating IgG level, Failure to thrive in infancy, Absent g... |
ORPHA:500150 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Failure to thrive, Decreased circulating antibody level, Asplenia |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Decreased body weight, Decreased circulating antibody level, Asplenia |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Failure to thrive, Decreased circulating antibody level, Asplenia |
ORPHA:261552 |