All individuals with variants in gene STAT1

118 entries on 2 pages. Showing entries 1 - 100.
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Population     

Age at death     

VIP     

Data_av     

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Phenotype details     

Variants     

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00080572 - {PMID 11452125:Dupuis 2001} autosomal dominant, partial STAT1 defectalso son reported later as asymptomatic: 16934001-Pat_C.III.2 F - France - - 0 - - IMD-31A mycobacteriosis 1 1 Johan den Dunnen
00080573 - {PMID 11452125:Dupuis 2001} family, 1 affected F - United States - - 0 - - IMD-31A mycobacteriosis 1 1 Johan den Dunnen
00080574 - {PMID12590259:Dupuis 2003} family, 1 affected F - Saudi Arabia - - 0 - - IMD-31B mycobacteriosis & viral infections 1 1 Esther van de Vosse
00080575 - {PMID12590259:Dupuis 2003} family, 1 affected F - Saudi Arabia - - 0 - - IMD-31B mycobacteriosis & viral infection 1 1 Esther van de Vosse
00080576 - {PMID16585605:Chapgier 2006a} family, 1 affected M yes Pakistan - - 0 - - IMD-31B mycobacteriosis & viral infection 1 1 Esther van de Vosse
00080577 - {PMID16934001:Chapgier 2006b} family, 3 affecteds F - Germany - - 0 - - IMD-31A mycobacteriosis 1 3 Johan den Dunnen
00080578 - PubMed: Chapgier 2006b family, 1 affected, 2 asymptomatic M no Germany - - 0 - - IMD-31A mycobacteriosis 1 1 Johan den Dunnen
00080579 - {PMID19436109:Chapgier 2009} family, 2 affecteds M yes Israel - - 0 - - IMD-31B mycobacteriosis & viral infection 1 2 Esther van de Vosse
00080580 - PubMed: van de Veerdonk 2011 family, 4 affecteds; one family member later reported: 22195034_Fam1P4 M - Netherlands - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 4 Johan den Dunnen
00080581 - PubMed: van de Veerdonk 2011 family, 5 affecteds F - United Kingdom (Great Britain) - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 5 Johan den Dunnen
00080582 - PubMed: van de Veerdonk 2011 family, 3 affecteds M - United Kingdom (Great Britain) - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 3 Johan den Dunnen
00080583 - {PMID21714643:van de Veerdonk 2011} (PMID26255980:Zheng 2015} family, 3 affecteds; 2 more patients from this family in Zheng et al 2015 F - United Kingdom (Great Britain) - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 3 Johan den Dunnen
00080584 - PubMed: van de Veerdonk 2011 family, 2 affecteds F - Netherlands - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 2 Johan den Dunnen
00080585 - {PMID20841510:Kong 2010} family, 2 affecteds M - Saudi Arabia - - 0 - - IMD-31B mycobacteriosis & viral infections 1 2 Esther van de Vosse
00080586 - {PMID21057861:Kristensen 2011} family, 1 affected F - (Denmark) - - 0 - - IMD-31B mycobacteriosis 2 1 Johan den Dunnen
00080587 - PubMed: Liu 2011 family, 2 affecteds, 1 no genetics - - Israel - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 2 Johan den Dunnen
00080588 - PubMed: Liu 2011 family, 6 affecteds, 4 no genetics - - France - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 2 Johan den Dunnen
00080589 - PubMed: Liu 2011 family, 2 affecteds - - Turkey - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 2 Johan den Dunnen
00080590 - PubMed: Liu 2011 family, 2 affecteds - - Japan - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 2 Johan den Dunnen
00080591 - PubMed: Liu 2011 family, 2 affecteds - - France - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 2 Johan den Dunnen
00080592 - PubMed: Liu 2011 family, 4 affecteds, 2 no genetics - - France - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 2 Johan den Dunnen
00080593 - PubMed: Liu 2011 family with 3 members affected, 1 no genetics - - France - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 2 Johan den Dunnen
00080594 - PubMed: Liu 2011 family, 1 affected, 1 no genetics M - France - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Johan den Dunnen
00080595 - PubMed: Liu 2011 family with 7 members affected, 1 no genetics - - Germany - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 6 Johan den Dunnen
00080596 - PubMed: Liu 2011 family, 3 affecteds - - Argentina - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 3 Johan den Dunnen
00080597 - PubMed: Liu 2011 family, 1 affected F - Germany - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Johan den Dunnen
00080598 - PubMed: Liu 2011 family, 1 affected F - France - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Johan den Dunnen
00080599 - PubMed: Liu 2011, PubMed: Soltesz 2013 family, 1 affected M - Ukraine - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Johan den Dunnen
00080600 - PubMed: Liu 2011 family, 1 affected F - Mexico - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Johan den Dunnen
00080601 - PubMed: Liu 2011 family, 2 affecteds - - Switzerland - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 2 Johan den Dunnen
00080602 - PubMed: Liu 2011 family, 1 affected M - Switzerland - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Johan den Dunnen
00080603 - PubMed: Liu 2011 family, 1 affected F - Germany - - 0 - - IMD-31C;CANDF-7 Chronic mucocutaneous candidiasis (CMC) 1 1 Johan den Dunnen
00080604 - PubMed: Liu 2011 family, 1 affected M - Germany - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Johan den Dunnen
00080605 - PubMed: Liu 2011 family, 3 affecteds, 1 no genetics - - France - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 2 Johan den Dunnen
00080606 - PubMed: Liu 2011 family, 1 affected F - Germany - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Johan den Dunnen
00080607 - {PMID22195034:Smeekens 2011} family, 3 affecteds F no United Kingdom (Great Britain) - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 3 Esther van de Vosse
00080608 - {PMID22195034:Smeekens 2011} family, 3 affecteds F no United Kingdom (Great Britain) - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 3 Esther van de Vosse
00080609 - {PMID21772053:Vairo 2011} family, 1 affected M yes Pakistan - - 0 - - IMD-31B Mycobacteriosis, viral infection & Aspergillus fumigatus 1 1 Esther van de Vosse
00080610 - {PMID22730530:Takezaki 2012} family, 1 affected M no Japan - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080611 - {PMID22730530:Takezaki 2012} family, 1 affected M no Japan - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080612 - {PMID 22573496:Tsumura 2012} family, 2 affected, 1 asymptomatic M no Japan - - 0 - - IMD-31A mycobacteriosis 1 2 Esther van de Vosse
00080613 - PubMed: Tsumura 2012 family, 1 affected F yes Saudi Arabia - - 0 - - IMD-31A mycobacteriosis 1 1 Esther van de Vosse
00080614 - {PMID22437822:Sampaio 2012} family, 1 affected M no (United States) - - 0 - - IMD-31A mycobacteriosis 1 1 Esther van de Vosse
00080615 - {PMID22847544:Hori 2012} family, 2 affecteds F ? (Japan) - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 2 Esther van de Vosse
00080616 - {PMID20962705:Averbuch 2011} {PMID24061272:Shamriz 2013} family, 2 affecteds M yes Israel islamic - 0 - - IMD-31B mycobacteriosis & viral infections & more 1 2 Esther van de Vosse
00080617 - PubMed: Hirata 2013 family, 2 affecteds M no Japan - - 0 - - IMD-31A mycobacteriosis 1 2 Esther van de Vosse
00080618 - PubMed: Wang 2012 family, 1 affected F no China Han Chinese - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080619 - PubMed: Sampaio 2013 family, 1 affected F ? United States Hispanic - 0 - - ? IMD-31C like; chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080620 - PubMed: Sampaio 2013 family, 1 affected F ? United States white - 0 - - ? IMD-31C like; chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080621 - PubMed: Sampaio 2013 family, 1 affected M ? (United States) white - 0 - - ? IMD-31C like; chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080622 - PubMed: Sampaio 2013 family, 1 affected M ? (United States) - - 0 - - ? IMD-31C like; chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080623 - PubMed: Sampaio 2013 family, 1 affected F no (United States) - - 0 - - ? IMD-31C like; chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080624 - PubMed: Al Rushood 2013 family, 3 affecteds M ? (Canada) - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 3 Esther van de Vosse
00080625 - PubMed: Aldave 2013 family, 1 affected F no Peru Mestizo - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080626 - PubMed: Soltesz 2013 family, 1 affected F ? Czech Republic - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080627 - PubMed: Soltesz 2013 family, 2 affecteds F ? Czech Republic - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 2 Esther van de Vosse
00080628 - PubMed: Liu 2011, PubMed: Soltesz 2013 family, 2 affecteds F ? Hungary - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC)also: herpes 1 2 Esther van de Vosse
00080629 - PubMed: Soltesz 2013 family, 1 affected F ? Russian Federation - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080630 - PubMed: Soltesz 2013 family, 1 affected F ? Russian Federation - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080631 - PubMed: Soltesz 2013 family, 1 affected M ? Ukraine - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080632 - PubMed: Sharfe 2014 autosomal dominant or haploinsufficiency? STAT1 defect M no (Canada) English - 0 - - ? IMD-31C?; chronic mucocutaneous candidiasis (CMC), also bacterial infections 1 1 Esther van de Vosse
00080633 - PubMed: Sharfe 2014 autosomal dominant or haploinsufficiency? STAT1 defect F no (Canada) English descent - 0 - - ? IMD-31C like; chronic mucocutaneous candidiasis (CMC), also viral and bacterial infections 1 1 Esther van de Vosse
00080634 - PubMed: Sharfe 2014 autosomal dominant or haploinsufficiency? STAT1 defect M no (Canada) English descent - 0 - - ? IMD-31C?; various viral and bacterial infections 1 1 Esther van de Vosse
00080635 - PubMed: Sharfe 2014 autosomal dominant or haploinsufficiency? STAT1 defect F no (Canada) Iranian descent - 0 - - ? IMD-31A?; mycobacteriosis, other bacterial and viral infections 1 1 Esther van de Vosse
00080636 - PubMed: Sharfe 2014 autosomal dominant or haploinsufficiency? STAT1 defect M no (Canada) - - 0 - - ? IMD-31A?; fevers, skin boils, diarrhea, autoimmmune 1 1 Esther van de Vosse
00080637 - PubMed: Romberg 2013 family, 4 affecteds F no United States - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 4 Esther van de Vosse
00080638 - PubMed: Kumar 2014 family, 1 affected M no (United States) mixed Asian/African - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080639 - PubMed: Tanimura 2015 family, 1 affected M ? Japan - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) and aortic aneurysms 1 1 Esther van de Vosse
00080640 - PubMed: Kataoka 2015 family, 2 affecteds M no Japan - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC), severe Tuberculosis 1 2 Esther van de Vosse
00080641 - PubMed: Zheng 2015 family, 1 affected M ? United Kingdom (Great Britain) - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080642 - PubMed: Zheng 2015 family, 1 affected M ? Netherlands - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080643 - PubMed: Giardino 2016 family, 1 affected M no Italy - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080644 - PubMed: Martinez-Martinez 2015 family, 3 affecteds M ? Spain - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 3 Esther van de Vosse
00080645 - PubMed: Nielsen 2015 family, 1 affected F ? Denmark - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080646 - PubMed: Zerbe 2016 family, 1 affected F ? United States African American - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) & Progressive multifocal leukoencephalopathy (PML) 1 1 Esther van de Vosse
00080647 - PubMed: Zerbe 2016 family, 1 affected M ? United States - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) & Progressive multifocal leukoencephalopathy (PML) 1 1 Esther van de Vosse
00080648 - PubMed: Zerbe 2016 family, 1 affected M ? United States Hispanic - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) & Progressive multifocal leukoencephalopathy (PML) 1 1 Esther van de Vosse
00080649 - PubMed: Dhalla 2015 family, 5 affecteds F ? United Kingdom (Great Britain) - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 5 Esther van de Vosse
00080650 - PubMed: Kilic 2014 family, 2 affecteds M no Turkey - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) & viral infection 1 2 Esther van de Vosse
00080651 - PubMed: Yamazaki 2014 family, 1 affected F no Japan - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080652 - PubMed: Yamazaki 2014 family, 2 affecteds F ? Japan - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 2 Esther van de Vosse
00080653 - PubMed: Mizoguchi 2014 family, 2 affecteds M ? Japan - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 2 Esther van de Vosse
00080654 - PubMed: Mizoguchi 2014 family, 1 affected M ? Japan - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080655 - PubMed: Mizoguchi 2014 family, 2 affecteds M ? Japan - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 2 Esther van de Vosse
00080656 - PubMed: Mizoguchi 2014 family, 2 affecteds F ? Japan - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 2 Esther van de Vosse
00080657 - PubMed: Mizoguchi 2014 family, 1 affected M ? Japan - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080658 - PubMed: Uzel 2013 family, 1 affected M ? United States Hispanic - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC)& IPEX-like features 1 1 Esther van de Vosse
00080659 - PubMed: Uzel 2013 family, 1 affected M ? United States white - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) & IPEX-like features 1 1 Esther van de Vosse
00080660 - PubMed: Uzel 2013 family, 1 affected F ? (United States) Korean - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) & IPEX-like features 1 1 Esther van de Vosse
00080661 - PubMed: Uzel 2013 family, 1 affected M ? United States white - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) & IPEX-like features 1 1 Esther van de Vosse
00080662 - PubMed: Uzel 2013 family, 1 affected M ? United States white - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) & IPEX-like features 1 1 Esther van de Vosse
00080663 - PubMed: Mekki 2014 family, 1 affected F yes Tunisia - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis 1 1 Esther van de Vosse
00080664 - PubMed: Sobh 2016 family, 1 affected F no (United States) - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) 1 1 Esther van de Vosse
00080665 - PubMed: Lee 2014 family, 1 affected M ? China - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis 1 1 Esther van de Vosse
00080666 - PubMed: Lee 2014 family, 1 affected F ? China - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis 1 1 Esther van de Vosse
00080667 - PubMed: Lee 2014 family, 1 affected F ? China - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis 1 1 Esther van de Vosse
00080668 - PubMed: Frans 2014 family, 1 affected M no Belgium - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis 1 1 Esther van de Vosse
00080669 - PubMed: Wildbaum 2013 family, 1 affected F ? Israel - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis 1 1 Esther van de Vosse
00080670 - PubMed: Mossner 2016 family, 1 affected M ? (Germany) Tunisian-German - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis 1 1 Esther van de Vosse
00080671 - PubMed: Higgins 2015 family, 1 affected F ? (Ireland) - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis 1 1 Esther van de Vosse
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