Disease #03566

Official abbreviation IMD-31C;CANDF-7
Name immunodeficiency, type 31C, autosomal dominant (IMD-31C, candidiasis, familial, type 7 (CANDF-7))
OMIM ID 614162
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 92
Phenotype entries for this disease 92
Associated with 1 gene STAT1
Associated tissues -
Disease features -
Remarks -


Individuals

92 entries on 1 page. Showing entries 1 - 92.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
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) STAT1 STAT1 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) STAT1 STAT1 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) STAT1 STAT1 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) STAT1 STAT1 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) STAT1 STAT1 1 2 Johan den Dunnen
00080587 - PubMed: Liu 2011 family, 2 affecteds, 1 no genetics - - Israel - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 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) STAT1 STAT1 1 2 Johan den Dunnen
00080589 - PubMed: Liu 2011 family, 2 affecteds - - Turkey - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 1 2 Johan den Dunnen
00080590 - PubMed: Liu 2011 family, 2 affecteds - - Japan - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 1 2 Johan den Dunnen
00080591 - PubMed: Liu 2011 family, 2 affecteds - - France - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 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) STAT1 STAT1 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) STAT1 STAT1 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) STAT1 STAT1 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) STAT1 STAT1 1 6 Johan den Dunnen
00080596 - PubMed: Liu 2011 family, 3 affecteds - - Argentina - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 1 3 Johan den Dunnen
00080597 - PubMed: Liu 2011 family, 1 affected F - Germany - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 1 1 Johan den Dunnen
00080598 - PubMed: Liu 2011 family, 1 affected F - France - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 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) STAT1 STAT1 1 1 Johan den Dunnen
00080600 - PubMed: Liu 2011 family, 1 affected F - Mexico - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 1 1 Johan den Dunnen
00080601 - PubMed: Liu 2011 family, 2 affecteds - - Switzerland - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 1 2 Johan den Dunnen
00080602 - PubMed: Liu 2011 family, 1 affected M - Switzerland - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 1 1 Johan den Dunnen
00080603 - PubMed: Liu 2011 family, 1 affected F - Germany - - 0 - - IMD-31C;CANDF-7 Chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 1 1 Johan den Dunnen
00080604 - PubMed: Liu 2011 family, 1 affected M - Germany - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 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) STAT1 STAT1 1 2 Johan den Dunnen
00080606 - PubMed: Liu 2011 family, 1 affected F - Germany - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 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) STAT1 STAT1 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) STAT1 STAT1 1 3 Esther van de Vosse
00080610 - {PMID22730530:Takezaki 2012} family, 1 affected M no Japan - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 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) STAT1 STAT1 1 1 Esther van de Vosse
00080615 - {PMID22847544:Hori 2012} family, 2 affecteds F ? (Japan) - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 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) STAT1 STAT1 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) STAT1 STAT1 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) STAT1 STAT1 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) STAT1 STAT1 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) STAT1 STAT1 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 STAT1 STAT1 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) STAT1 STAT1 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) STAT1 STAT1 1 1 Esther van de Vosse
00080631 - PubMed: Soltesz 2013 family, 1 affected M ? Ukraine - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 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) STAT1 STAT1 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) STAT1 STAT1 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 STAT1 STAT1 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 STAT1 STAT1 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) STAT1 STAT1 1 1 Esther van de Vosse
00080642 - PubMed: Zheng 2015 family, 1 affected M ? Netherlands - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 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) STAT1 STAT1 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) STAT1 STAT1 1 3 Esther van de Vosse
00080645 - PubMed: Nielsen 2015 family, 1 affected F ? Denmark - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 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) STAT1 STAT1 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) STAT1 STAT1 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) STAT1 STAT1 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) STAT1 STAT1 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 STAT1 STAT1 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) STAT1 STAT1 1 1 Esther van de Vosse
00080652 - PubMed: Yamazaki 2014 family, 2 affecteds F ? Japan - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 1 2 Esther van de Vosse
00080653 - PubMed: Mizoguchi 2014 family, 2 affecteds M ? Japan - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 1 2 Esther van de Vosse
00080654 - PubMed: Mizoguchi 2014 family, 1 affected M ? Japan - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 1 1 Esther van de Vosse
00080655 - PubMed: Mizoguchi 2014 family, 2 affecteds M ? Japan - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 1 2 Esther van de Vosse
00080656 - PubMed: Mizoguchi 2014 family, 2 affecteds F ? Japan - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 1 2 Esther van de Vosse
00080657 - PubMed: Mizoguchi 2014 family, 1 affected M ? Japan - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis (CMC) STAT1 STAT1 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 STAT1 STAT1 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 STAT1 STAT1 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 STAT1 STAT1 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 STAT1 STAT1 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 STAT1 STAT1 1 1 Esther van de Vosse
00080663 - PubMed: Mekki 2014 family, 1 affected F yes Tunisia - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis STAT1 STAT1 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) STAT1 STAT1 1 1 Esther van de Vosse
00080665 - PubMed: Lee 2014 family, 1 affected M ? China - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis STAT1 STAT1 1 1 Esther van de Vosse
00080666 - PubMed: Lee 2014 family, 1 affected F ? China - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis STAT1 STAT1 1 1 Esther van de Vosse
00080667 - PubMed: Lee 2014 family, 1 affected F ? China - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis STAT1 STAT1 1 1 Esther van de Vosse
00080668 - PubMed: Frans 2014 family, 1 affected M no Belgium - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis STAT1 STAT1 1 1 Esther van de Vosse
00080669 - PubMed: Wildbaum 2013 family, 1 affected F ? Israel - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis STAT1 STAT1 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 STAT1 STAT1 1 1 Esther van de Vosse
00080671 - PubMed: Higgins 2015 family, 1 affected F ? (Ireland) - - 0 - - IMD-31C;CANDF-7 chronic mucocutaneous candidiasis STAT1 STAT1 1 1 Esther van de Vosse
00080672 - PubMed: Kobbe 2016 family, 1 affected M no Germany - - 0 - - IMD-31C;CANDF-7 CMC and CVID STAT1 STAT1 1 1 Esther van de Vosse
00080673 - PubMed: Depner 2016 family, 2 affecteds - ? Brazil - - 0 - - IMD-31C;CANDF-7 - STAT1 STAT1 1 2 Esther van de Vosse
00080674 - PubMed: Depner 2016 family, 4 affecteds - ? United States not specified - 0 - - IMD-31C;CANDF-7 - STAT1 STAT1 1 4 Esther van de Vosse
00080675 - PubMed: Depner 2016 family, 3 affecteds - ? Norway - - 0 - - IMD-31C;CANDF-7 - STAT1 STAT1 1 3 Esther van de Vosse
00080676 - PubMed: Depner 2016 family, 3 affecteds - ? Norway - - 0 - - IMD-31C;CANDF-7 - STAT1 STAT1 1 3 Esther van de Vosse
00080677 - PubMed: Depner 2016 family, 3 affecteds - ? Germany - - 0 - - IMD-31C;CANDF-7 - STAT1 STAT1 1 3 Esther van de Vosse
00080678 - PubMed: Depner 2016 family, 4 affecteds - ? Germany - - 0 - - IMD-31C;CANDF-7 - STAT1 STAT1 1 4 Esther van de Vosse
00080679 - PubMed: Depner 2016 family, 2 affecteds - - Slovakia (Slovak Republic) - - 0 - - IMD-31C;CANDF-7 - STAT1 STAT1 1 2 Esther van de Vosse
00080680 - PubMed: Depner 2016 family, 2 affecteds - - Germany - - 0 - - IMD-31C;CANDF-7 - STAT1 STAT1 1 2 Esther van de Vosse
00080681 - PubMed: Depner 2016 family, 3 affecteds - - Canada - - 0 - - IMD-31C;CANDF-7 - STAT1 STAT1 1 3 Esther van de Vosse
00080682 - PubMed: Depner 2016 family, 1 affected - - United Kingdom (Great Britain) - - 0 - - IMD-31C;CANDF-7 - STAT1 STAT1 1 1 Esther van de Vosse
00080683 - PubMed: Depner 2016 family, 1 affected - - Belgium - - 0 - - IMD-31C;CANDF-7 - STAT1 STAT1 1 1 Esther van de Vosse
00080684 - PubMed: Depner 2016 family, 1 affected - - Brazil - - 0 - - IMD-31C;CANDF-7 - STAT1 STAT1 1 1 Esther van de Vosse
00080685 - PubMed: Depner 2016 family, 1 affected - - Colombia - - 0 - - IMD-31C;CANDF-7 - STAT1 STAT1 1 1 Esther van de Vosse
00080686 - PubMed: Depner 2016 family, 1 affected - - Germany - - 0 - - IMD-31C;CANDF-7 - STAT1 STAT1 1 1 Esther van de Vosse
00080687 - PubMed: Depner 2016 family, 1 affected - - Belgium - - 0 - - IMD-31C;CANDF-7 - STAT1 STAT1 1 1 Esther van de Vosse
00080688 - PubMed: Depner 2016 family, 1 affected - - United Kingdom (Great Britain) - - 0 - - IMD-31C;CANDF-7 - STAT1 STAT1 1 1 Esther van de Vosse
00080689 - PubMed: Depner 2016 family, 1 affected - - United States - - 0 - - IMD-31C;CANDF-7 - STAT1 STAT1 1 1 Esther van de Vosse
Legend