Disease #05292 (IMD (immunodeficiency (IMD)))

Official abbreviation IMD
Name immunodeficiency (IMD)
OMIM ID -
Inheritance -
Individuals reported having this disease 153
Phenotype entries for this disease 149
Associated with 5 genes ATP6AP1, GTF3A, IL7R, LAT, PTPRC
Associated tissues -
Disease features -
Remarks -
Date created 2017-06-24 18:16:32 +02:00 (CEST)
Date last edited 2017-10-24 17:01:05 +02:00 (CEST)


Individuals

153 entries on 2 pages. Showing entries 1 - 100.
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00001466 FamHED-ID4PatIII1/2;Pat5/6 PubMed: Zonana 2000, PubMed: Orange 2004, PubMed: Fuleihan 1993 3-generation family, carrier female, 2 deceased male patients M ? United States - - - - - IMD see paper; ..., hypohidrotic ectodermal dysplasia, immune deficiency IKBKG IKBKG 1 2 Francesca Fusco
00105824 28216435-FamPat1 PubMed: Gavino 2017, Journal: Gavino 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/sister M yes Canada Coptic - - - - IMD see paper; ..., failure to thrive, adrenal insufficiency, infancy-inflammatory enterocolitis, 9m-recurrent respiratory tract infections, intermittent mucocutaneous candidiasis, recurrent herpes simplex virus stomatitis, 3x varicella-zoster virus infections, visible thymus, normal immunoglobulin isotypes with poor response to vaccines, persistent CD81 lymphocytopenia (0.01-0.03 total T-cells age-adjusted reference range); older brother died at 16m from suspected viral encephalitis ZAP70 ZAP70 1 1 Johan den Dunnen
00131880 patient 1 - 1 affected M no Belgium - 01y - yes - IMD immunodeficiency (IMD-47), hepatopathy, cutis laxa, dilatation of sinus aortae, cholestasis, hepatopathy, diaphragmatic hernia, recurrent infections ATP6AP1 ATP6AP1 1 1 Jeroen Breckpot
00208910 Patient A Journal: Geier 2018 - M no Austria - - - - - IMD - BLNK, BTK BTK 1 1 Gerard C.P. Schaafsma
00266102 FamPatV1 PubMed: Picard 2009 5-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/relatives F yes France - 9y - - - IMD infection with Escherichia coli and Streptococcus pneu-moniae resulting in sepsis, urinary tract infections, pneumonia, infection with CMV and VZV; hemolytic anemia, thrombocytopenia; lymphadenopathy, hepatosplenomegaly; muscular hypotonia, partial iris hypoplasia, abnormal dental enamel; 9y-died from hematopoietic stem-cell transplantation complications STIM1 STIM1 1 3 Johan den Dunnen
00266103 FamPatV4 PubMed: Picard 2009 - F yes France - 18m - - - IMD infection with EBV, enteroviral encephalitis, prolonged diarrhea; hemolytic anemia, thrombocytopenia; lymphadenopathy, hepatosplenomegaly; muscular hypotonia, partial iris hypoplasia, abnormal dental enamel, nephrotic syndrome; 18m-died from encephalitis - - - 1 Johan den Dunnen
00266104 FamPatV7 PubMed: Picard 2009 - M yes France - - - - - IMD undocumented sepsis, treatment with IV immune globulin since birth; thrombocytopenia; no lymphoproliferative disorder; muscular hypotonia, partial iris hypoplasia, abnormal dental enamel, hypoglycemia; 15m-hematopoietic stem-cell transplantation, currently alive and well with muscular hypotonia STIM1 STIM1 1 1 Johan den Dunnen
00266105 FamPatIV2 PubMed: Byun 2010 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - 2y4m - - - IMD see paper; … STIM1 STIM1 1 1 Johan den Dunnen
00266114 FamPatII1/2 PubMed: Tadic 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Turkey - - - - - IMD see paper; … CAPN1 CAPN1 1 1 Johan den Dunnen
00266115 Fam1PatII1 PubMed: Kocoglu 2018 - F - Turkey - - - - - IMD lower limb spaticity, upper limb spaticity, gait ataxia, limb ataxia, dysarthria, dysmetria; MRI brain/spinal normal; nerve conduction study normal; keratoconus CAPN1 CAPN1 1 1 Johan den Dunnen
00266116 Fam2PatII1 PubMed: Kocoglu 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Turkey - - - - - IMD lower limb spaticity, upper limb spaticity, gait ataxia, limb ataxia, dysarthria, dysmetria; MRI brain/spinal normal; nerve conduction study normal, sensory evoked potential normal CAPN1 CAPN1 1 2 Johan den Dunnen
00266117 Fam2PatII2 PubMed: Kocoglu 2018 - F yes Turkey - - - - - IMD lower limb spaticity, no upper limb spaticity, gait ataxia, limb ataxia, dysarthria CAPN1 CAPN1 1 1 Johan den Dunnen
00266118 FamPatII4 PubMed: Lambe 2018 2-generation family, 1 affected (2 stillborn F), unaffected heterozygous carrier parents/relatives F - - - - - - - IMD see paper; … CAPN1 CAPN1 1 1 Johan den Dunnen
00266119 FamPat PubMed: Travaglini 2017 - M no Italy - - - - - IMD see paper; … CAPN1 CAPN1 3 1 Johan den Dunnen
00266149 case1 PubMed: Shetty 2018 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Japan - - - - - IMD see paper; …, spastic paraparesis, ataxia (mild); MRI brain and cervical spine normal CAPN1 CAPN1 1 1 Johan den Dunnen
00266150 FamPat2/3 PubMed: Shetty 2018 4-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents F;M yes Turkey - - - - - IMD see paper; …, spastic paraparesis, MRI dorsal spinecord atrophy, MRI brain normal CAPN1 CAPN1 1 1 Johan den Dunnen
00266151 case4 PubMed: Shetty 2018 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes India Punjabi - - - - IMD see paper; …, spastic paraparesis, ataxia (mild); MRI brain and cervical spine normal CAPN1 CAPN1 1 1 Johan den Dunnen
00331242 Pat1 PubMed: Orange 2002, PubMed: Orange 2004 - M - United States - - - - - IMD see paper; ..., hypohidrotic ectodermal dysplasia, immune deficiency IKBKG IKBKG 1 1 Johan den Dunnen
00331243 Pat2 PubMed: Orange 2002, PubMed: Orange 2004 - M - United States - - - - - IMD see paper; ..., hypohidrotic ectodermal dysplasia, immune deficiency IKBKG IKBKG 1 1 Johan den Dunnen
00331244 Pat3 PubMed: Orange 2002, PubMed: Orange 2004 - M - United States - - - - - IMD see paper; ..., hypohidrotic ectodermal dysplasia, immune deficiency IKBKG IKBKG 1 1 Johan den Dunnen
00331245 Pat4 PubMed: Orange 2004 - M - United States - - - - - IMD see paper; ..., hypohidrotic ectodermal dysplasia, immune deficiency IKBKG IKBKG 1 1 Johan den Dunnen
00331246 Pat5 PubMed: Orange 2004 - M - United States - - - - - IMD see paper; ..., no ectodermal dysplasia, immune deficiency IKBKG IKBKG 1 1 Johan den Dunnen
00414602 family PubMed: Alkhairy 2015 2 generation family, affected sister/brother, unaffected heterozygous carrier mother, first-degree consanguineous parents F yes Iran - - - - - IMD see paper; ..., common variable immunodeficiency, glomerulonephritis, coagulopathy, multiple hormone deficiencies, abnormalities neutrophil granules; 21y-died of graft rejection and possible cerebral hemorrhage - RAC2 1 2 Johan den Dunnen
00414603 patient PubMed: Ambruso 2000, PubMed: Williams 2000 2 generation family, 1 affected, unaffected non carrier parents M - United States - - - - - IMD see paper; ..., 5w-perirectal abscess, failure umbilical stump to involute; 5m-recurrent perirectal abscesses, infected urachal cyst, failure to heal surgical wounds, absence of pus in infected areas RAC2 RAC2 1 1 Johan den Dunnen
00414604 patient PubMed: Accetta 2011 2 generation family, 1 affected, unaffected non carrier parents M no United States - - - - - IMD - RAC2 RAC2 1 1 Johan den Dunnen
00414605 patient PubMed: Roos 2021 - - - - - - - - - IMD - RAC2 RAC2 1 1 Johan den Dunnen
00414606 Pat1 PubMed: Hsu 2019 - F - United States - - - - - IMD see paper; ... - RAC2 1 1 Johan den Dunnen
00414607 Pat2 PubMed: Hsu 2019 - F - United States - - - - - IMD see paper; ... - RAC2 1 1 Johan den Dunnen
00414608 Pat3 PubMed: Hsu 2019 - M - United States - - - - - IMD see paper; ... - RAC2 1 1 Johan den Dunnen
00414609 family PubMed: Roos 2020 3-generation family, affected boy, father, grandfather M no Netherlands - - - - - IMD see paper; ... - RAC2 1 3 Johan den Dunnen
00414610 patient PubMed: Sharapova 2019 2 generation family, 1 affected, unaffected non carrier mother F no Ukraine - - - - - IMD see paper; ..., recurrent respiratory infections, lung disease, susceptibility to varicella and herpetic infections - RAC2 1 1 Johan den Dunnen
00414611 family PubMed: Lougaris 2019 2-generation family, affected father and 2 daugthers F;M no - - - - - - IMD see paper; ... - RAC2 1 3 Johan den Dunnen
00414613 patient PubMed: Lagresle-Peyrou 2021 2 generation family, 1 affected, unaffected non carrier parents M - France - - - - - IMD see paper; ... - RAC2 1 1 Johan den Dunnen
00414614 family 2 generation family, affected mother/daughter - F - France - - - - - IMD see paper; ... - RAC2 1 2 Johan den Dunnen
00419669 - PubMed: Newman 2019, Journal: Newman 2019 - - - United States - - - - - IMD Proband and sons presenting with IgG4 related disease FGFBP2 FGFBP2 2 3 Christian Drouet
00432526 Pat104,1 PubMed: Stray-Pedersen 2017 2-generation family, 1 affected, unaffected parents F - Norway - - - - - IMD - - NCF1 1 1 Johan den Dunnen
00433035 Pat1,1 PubMed: Stray-Pedersen 2017 2-generation family, 1 affected, unaffected non-carriermother M - Norway - - - - - IMD antibody deficiency including hyper IgM syndrome - IKZF1 1 1 Johan den Dunnen
00433036 Pat2,1 PubMed: Stray-Pedersen 2017 - M - Norway - - - - - IMD antibody deficiency including hyper IgM syndrome - BTK, ELF4 2 1 Johan den Dunnen
00433037 Pat3,1 PubMed: Stray-Pedersen 2017 - M - Ecuador - - - - - IMD antibody deficiency including hyper IgM syndrome - CD40LG, PSTPIP1 2 1 Johan den Dunnen
00433038 Pat5,1 PubMed: Stray-Pedersen 2017 - F - Turkey - - - - - IMD antibody deficiency including hyper IgM syndrome - AICDA 1 1 Johan den Dunnen
00433039 Pat6,1 PubMed: Stray-Pedersen 2017 - M - Norway - - - - - IMD antibody deficiency including hyper IgM syndrome - CD40LG 1 1 Johan den Dunnen
00433040 Pat7,1 PubMed: Stray-Pedersen 2017 - F - United States Europe - - - - IMD antibody deficiency including hyper IgM syndrome - SKIV2L 2 1 Johan den Dunnen
00433041 Pat8,1 PubMed: Stray-Pedersen 2017 - M - United States - - - - - IMD antibody deficiency including hyper IgM syndrome - SP110 1 1 Johan den Dunnen
00433042 Pat9,1 PubMed: Stray-Pedersen 2017 - M - United States Europe - - - - IMD autoimmune disease - FOXP3, RUNX1 2 1 Johan den Dunnen
00433043 Pat10,1 PubMed: Stray-Pedersen 2017 - F - United States Europe - - - - IMD autoimmune disease - COPA 1 1 Johan den Dunnen
00433044 Pat11,1 PubMed: Stray-Pedersen 2017 family, 2 affected F - United States Europe - - - - IMD autoimmune disease - COPA 1 2 Johan den Dunnen
00433045 Pat12,1 PubMed: Stray-Pedersen 2017 - F - United States Europe - - - - IMD autoimmune disease - COPA 1 1 Johan den Dunnen
00433046 Pat13,1 PubMed: Stray-Pedersen 2017 - F - United States Europe - - - - IMD autoimmune disease - CBL 1 1 Johan den Dunnen
00433047 Pat14,1 PubMed: Stray-Pedersen 2017 - M - United States Europe 6y - - - IMD autoimmune disease - CTLA4 1 1 Johan den Dunnen
00433048 Pat15,1 PubMed: Stray-Pedersen 2017 - F - Norway - - - - - IMD autoimmune disease - CTLA4 1 1 Johan den Dunnen
00433049 Pat16,1 PubMed: Stray-Pedersen 2017 - F - Ecuador - - - - - IMD autoimmune disease - CASP10 1 1 Johan den Dunnen
00433050 Pat17,1 PubMed: Stray-Pedersen 2017 - F - United States Europe - - - - IMD autoimmune disease - PLCG2 1 1 Johan den Dunnen
00433051 Pat19,1 PubMed: Stray-Pedersen 2017 - M - Ecuador - - - - - IMD autoimmune disease - FOXP3, NRAS 2 1 Johan den Dunnen
00433052 Pat20,1 PubMed: Stray-Pedersen 2017 - F - Norway - - - - - IMD autoimmune disease - FASLG 1 1 Johan den Dunnen
00433053 Pat22,1 PubMed: Stray-Pedersen 2017 - F - United States Europe - - - - IMD autoinflammatory disorder - COPA 1 1 Johan den Dunnen
00433054 Pat23,1 PubMed: Stray-Pedersen 2017 - M - Norway - - - - - IMD autoinflammatory disorder - PIK3CD 1 1 Johan den Dunnen
00433055 Pat24,1 PubMed: Stray-Pedersen 2017 variant in potential novel gene 3 (c.1315A>G:p.M439V) F - United States Hispanic;Latino - - - - IMD combined immunodeficiency (not SCID), selective T cell deficiency - - - 1 Johan den Dunnen
00433056 Pat26,1 PubMed: Stray-Pedersen 2017 family, 2 affected M - United States Europe - - - - IMD combined immunodeficiency (not SCID), selective T cell deficiency - CORO1A 2 2 Johan den Dunnen
00433057 Pat27,1 PubMed: Stray-Pedersen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - United States Hispanic;Latino - - - - IMD combined immunodeficiency (not SCID), selective T cell deficiency - RNF168, ZAP70 3 1 Johan den Dunnen
00433058 Pat28,1 PubMed: Stray-Pedersen 2017 3-generation family, 2 affected (boy/uncle-28.4), unaffected heterozygous carrier mother M - Norway - - - - - IMD combined immunodeficiency (not SCID), selective T cell deficiency - BTK, MAGT1 2 2 Johan den Dunnen
00433059 Pat30,1 PubMed: Stray-Pedersen 2017 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Turkey - - - - - IMD combined immunodeficiency (not SCID), selective T cell deficiency - DOCK8 1 2 Johan den Dunnen
00433060 Pat31,1 PubMed: Stray-Pedersen 2017 - F - Turkey - - - - - IMD combined immunodeficiency (not SCID), selective T cell deficiency - DCLRE1C 1 1 Johan den Dunnen
00433061 Pat32,1 PubMed: Stray-Pedersen 2017 variant in potential novel gene 6 (c.914C>T:p.P305L (paternal), c.364G>C:p.E122Q (maternal)) M - United States Europe - - - - IMD combined immunodeficiency (not SCID), selective T cell deficiency - - - 1 Johan den Dunnen
00433062 Pat33,1 PubMed: Stray-Pedersen 2017 family, 2 affected; variants in potential novel gene 1 (c.1916T>A:p.L639H) F - Norway - - - - - IMD combined immunodeficiency (not SCID), selective T cell deficiency - - - 2 Johan den Dunnen
00433063 Pat34,1 PubMed: Stray-Pedersen 2017 - M - United States Hispanic;Latino - - - - IMD combined immunodeficiency (not SCID), selective T cell deficiency - LYST 2 1 Johan den Dunnen
00433064 Pat35,1 PubMed: Stray-Pedersen 2017 - M - Ecuador - - - - - IMD combined immunodeficiency (not SCID), selective T cell deficiency - WAS 1 1 Johan den Dunnen
00433065 Pat36,1 PubMed: Stray-Pedersen 2017 - F - United States Europe - - - - IMD combined immunodeficiency (not SCID), selective T cell deficiency - DOCK8 1 1 Johan den Dunnen
00433066 Pat37,1 PubMed: Stray-Pedersen 2017 - M - Norway - 4y - - - IMD combined immunodeficiency (not SCID), selective T cell deficiency - STAT1, TNFRSF13B 2 1 Johan den Dunnen
00433067 Pat38,1 PubMed: Stray-Pedersen 2017 - M - Norway - - - - - IMD combined immunodeficiency (not SCID), selective T cell deficiency - LIG4 2 1 Johan den Dunnen
00433068 Pat39,1 PubMed: Stray-Pedersen 2017 variants in potential novel gene 1 (c.1916T>A:p.L639H) M - Norway - - - - - IMD combined immunodeficiency (not SCID), selective T cell deficiency - - - 1 Johan den Dunnen
00433069 Pat40,1 PubMed: Stray-Pedersen 2017 - M - Turkey - 25y - - - IMD combined immunodeficiency (not SCID), selective T cell deficiency - DCLRE1C 1 1 Johan den Dunnen
00433070 Pat41,1 PubMed: Stray-Pedersen 2017 - M - United States Europe - - - - IMD defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency - MX2 2 1 Johan den Dunnen
00433071 Pat43,1 PubMed: Stray-Pedersen 2017 - F - United States Europe - - - - IMD combined immunodeficiency (not SCID), selective T cell deficiency - TTC7A 2 1 Johan den Dunnen
00433072 Pat45,1 PubMed: Stray-Pedersen 2017 family, 4 affected; variant in potential novel gene 5 (c.1082C>T:p.P361L) M - Norway - - - - - IMD common variable immunodeficiency - - - 4 Johan den Dunnen
00433073 Pat46,1 PubMed: Stray-Pedersen 2017 family, 2 affected F - Norway - - - - - IMD common variable immunodeficiency - CTLA4 1 2 Johan den Dunnen
00433074 Pat47,1 PubMed: Stray-Pedersen 2017 - F - United States Europe - - - - IMD common variable immunodeficiency - NFKB2 1 1 Johan den Dunnen
00433075 Pat48,1 PubMed: Stray-Pedersen 2017 family, 2 affected M - Norway - - - - - IMD common variable immunodeficiency - TGFB1 1 2 Johan den Dunnen
00433076 Pat49,1 PubMed: Stray-Pedersen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - United States Europe - - - - IMD common variable immunodeficiency - JAK3, TNFRSF13B 3 1 Johan den Dunnen
00433077 Pat50,1 PubMed: Stray-Pedersen 2017 - M - United States Europe - - - - IMD common variable immunodeficiency - STAT1 1 1 Johan den Dunnen
00433078 Pat53,1 PubMed: Stray-Pedersen 2017 - M - Norway - - - - - IMD common variable immunodeficiency - IL10 1 1 Johan den Dunnen
00433079 Pat54,1 PubMed: Stray-Pedersen 2017 - M - Norway - - - - - IMD common variable immunodeficiency - SH2D1A 1 1 Johan den Dunnen
00433080 Pat56,1 PubMed: Stray-Pedersen 2017 - F - Ecuador - - - - - IMD defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency - IL12RB1 1 1 Johan den Dunnen
00433081 Pat57,1 PubMed: Stray-Pedersen 2017 - M - Norway - - - - - IMD defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency - CFP 1 1 Johan den Dunnen
00433082 Pat58,1 PubMed: Stray-Pedersen 2017 - F - Norway - - - - - IMD defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency - IFNGR2 1 1 Johan den Dunnen
00433083 Pat59,1 PubMed: Stray-Pedersen 2017 - M - Turkey - - - - - IMD defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency - IKBKG 1 1 Johan den Dunnen
00433084 Pat60,1 PubMed: Stray-Pedersen 2017 - F - Mexico - - - - - IMD defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency - STAT3 1 1 Johan den Dunnen
00433085 Pat61,1 PubMed: Stray-Pedersen 2017 - M - Norway - - - - - IMD defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency - STAT1 1 1 Johan den Dunnen
00433086 Pat62,1 PubMed: Stray-Pedersen 2017 - F - Norway - - - - - IMD defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency - STAT1 1 1 Johan den Dunnen
00433087 Pat63,1 PubMed: Stray-Pedersen 2017 2-generation family, 1 affected, unaffected parents M - Norway - - - - - IMD neutrophil defect or congenital condition with bone marrow failure such as dyskeratosis congenita and Fanconi-like phenotype, anemia and thrombocytopenia - TERC 1 1 Johan den Dunnen
00433088 Pat64,1 PubMed: Stray-Pedersen 2017 - F - Qatar - - - - - IMD defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency - IFNGR2 1 1 Johan den Dunnen
00433089 Pat65,1 PubMed: Stray-Pedersen 2017 - F - Norway - 4y - - - IMD defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency - KRAS 1 1 Johan den Dunnen
00433090 Pat66,1 PubMed: Stray-Pedersen 2017 2-generation family, 3 affected sibs, mildly affected mosaic father F - United States Europe - - - - IMD defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency - STAT3 1 1 Johan den Dunnen
00433091 Pat67,1 PubMed: Stray-Pedersen 2017 family, 3 affected M - - Middle East - - - - IMD defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency - PIK3CD 1 3 Johan den Dunnen
00433092 Pat68,1 PubMed: Stray-Pedersen 2017 variants in potential novel gene 2 (c.1276C>T:p.R426C, c.1744C>T:p.R582*) M - United Kingdom (Great Britain) - 00y12m - - - IMD defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency - - - 1 Johan den Dunnen
00433093 Pat69,1 PubMed: Stray-Pedersen 2017 - F - - - - - - - IMD defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency - PRF1 2 1 Johan den Dunnen
00433094 Pat70,1 PubMed: Stray-Pedersen 2017 - M - United States Asia - - - - IMD autoimmune disease - CCDC40 1 1 Johan den Dunnen
00433095 Pat71,1 PubMed: Stray-Pedersen 2017 - F - Canada Native American - - - - IMD defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency - ATP6V0A2, FBN1 2 1 Johan den Dunnen
00433096 Pat72,1 PubMed: Stray-Pedersen 2017 adult M - United States Europe - - - - IMD defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency - IRF8 2 1 Johan den Dunnen
00433097 Pat73,1 PubMed: Stray-Pedersen 2017 - F - Germany - - - - - IMD defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency - DOCK8 1 1 Johan den Dunnen
00433098 Pat74,1 PubMed: Stray-Pedersen 2017 - M - United States Europe - - - - IMD defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency - WAS 1 1 Johan den Dunnen
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