All individuals with variants in gene IFNGR1

118 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00260658 - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - Healthy/Control - 290 1 LOVD
00260659 - PubMed: Jouanguy 1999 1 family, 3 patients F no Ireland - - 0 - - IMD-27B - 1 3 LOVD
00260660 - PubMed: Jouanguy 1999 1 family, 2 patients F no Ireland - - 0 - - IMD-27B - 1 2 LOVD
00260661 - PubMed: Jouanguy 1999 PubMed: Roesler 2011 1 family, 3 patients; 2 patients, 2 asymptomatics in this family; in later publication one of the asymptomatics developed VZV meningoencephalitis (see Roesler et al 2011) F no Germany - - 0 - - IMD-27B - 1 3 LOVD
00260662 - PubMed: Jouanguy 1999 - F no Italy - - 0 - - IMD-27B - 1 1 LOVD
00260663 - PubMed: Jouanguy 1999 - F no Morocco - - 0 - - IMD-27B - 1 1 LOVD
00260664 - PubMed: Jouanguy 1999 - M no Sweden - - 0 - - IMD-27B - 1 1 LOVD
00260665 - PubMed: Jouanguy 1999 - M no United Kingdom (Great Britain) - - 0 - - IMD-27B - 1 1 LOVD
00260666 - PubMed: Jouanguy 1999 - F no United States - - 0 - - IMD-27B - 1 1 LOVD
00260667 - PubMed: Jouanguy 1999 PubMed: Zerbe 2005 - M no United States - - 0 - - IMD-27B - 1 1 LOVD
00260668 - PubMed: Jouanguy 1999 - M no United States - - 0 - - IMD-27B - 1 1 LOVD
00260669 - PubMed: Jouanguy 1999 - M no United States - - 0 - - IMD-27B - 1 1 LOVD
00260670 - PubMed: Jouanguy 1999 - M no United Kingdom (Great Britain) - - 0 - - IMD-27B - 1 1 LOVD
00260671 - PubMed: Dorman 2000 - - no ? (unknown) Korean/African - 0 - - IMD-27B - 1 1 LOVD
00260672 - PubMed: Arend 2001 1 family, 2 patients F ? Netherlands - - 0 - - IMD-27B - 1 2 LOVD
00260673 - PubMed: Arend 2001 1 family, 4 patients M no Netherlands - - 0 - - IMD-27B - 1 4 LOVD
00260674 - PubMed: Arend 2001 1 family 3 patients; in the publication: 2 patients+1 asymptomatic sibling. this sibling has since developed disease as well F no Netherlands - - 0 - - IMD-27B - 1 3 LOVD
00260675 - PubMed: Villella 2001 - F ? United States white - 0 - - IMD-27B - 1 1 LOVD
00260676 - PubMed: Edgar 2001 1 family, 2 patients F ? (United Kingdom (Great Britain)) - - 0 - - IMD-27B - 1 2 LOVD
00260677 - PubMed: Edgar 2001 - F ? (United Kingdom (Great Britain)) - - 0 - - IMD-27B - 1 1 LOVD
00260678 - PubMed: Sasaki 2002 - F ? Japan - - 0 - - IMD-27B - 1 1 LOVD
00260679 - PubMed: Sasaki 2002 1 family, 2 patients M ? Japan - - 0 - - IMD-27B - 1 2 LOVD
00260680 - PubMed: Sasaki 2002 - M ? Japan - - 0 - - IMD-27B - 1 1 LOVD
00260681 - PubMed: Waibel 2002 1 family, 2 patients F ? (United States) - - 0 - - IMD-27B - 1 2 LOVD
00260682 - PubMed: Dorman 2004 1 family, 2 patients M ? United States - - 0 - - IMD-27B - 1 2 LOVD
00260683 - PubMed: Dorman 2004 - M ? United States - - 0 - - IMD-27B - 1 1 LOVD
00260684 - PubMed: Dorman 2004 1 family, 2 patients M ? United States - - 0 - - IMD-27B - 1 2 LOVD
00260685 - PubMed: Dorman 2004 - M ? India - - 0 - - IMD-27B - 1 1 LOVD
00260686 - PubMed: Dorman 2004 - F ? France - - 0 - - IMD-27B - 1 1 LOVD
00260687 - PubMed: Dorman 2004 1 family, 2 patients F ? Germany - - 0 - - IMD-27B - 1 2 LOVD
00260688 - PubMed: Storgaard 2006 PubMed: Bang 2008 1 family, 2 patients; mutation appeared de novo in father, and then inherited by daughter M ? (Denmark) - - 0 - - IMD-27B - 1 2 LOVD
00260689 - PubMed: Okada 2007 - F ? Japan - - 0 - - IMD-27B - 1 1 LOVD
00260690 - PubMed: Han 2004 1 family, 2 patients+1 deceased sib M ? (United States) - - 0 - - IMD-27B - 1 2 LOVD
00260691 - PubMed: Glosli 2008 1 family, 4 patients+1 asymptomatic F no Norway - - 0 - - IMD-27B - 1 4 LOVD
00260692 - PubMed: Lee 2008 1 family, 2 patients M ? Taiwan - - 0 - - IMD-27B - 1 2 LOVD
00260693 - PubMed: Lee 2008 - F ? Taiwan - - 0 - - IMD-27B - 1 1 LOVD
00260694 - PubMed: Vinh 2009 - M ? United States white - 0 - - IMD-27B - 1 1 LOVD
00260695 - PubMed: Auld 2011 1 family, 2 patients F ? Australia - - 0 - - IMD-27B - 1 2 LOVD
00260696 - PubMed: Muszlak 2007 - F no Comoros - - 0 - - IMD-27B - 1 1 LOVD
00260697 - PubMed: Obinata 2012 - M no Japan - - 0 - - IMD-27B - 1 1 LOVD
00260698 - PubMed: Obinata 2012 - F no Japan - - 0 - - IMD-27B - 1 1 LOVD
00260699 - PubMed: Rose 2014 - M ? United States white - 0 - - IMD-27B - 1 1 LOVD
00260700 - PubMed: Takeda 2014 1 family, 2 patients F no Japan - - 0 - - IMD-27B - 1 2 LOVD
00260701 - PubMed: Quispel 2014 - M no Netherlands - - 0 - - IMD-27B - 1 1 LOVD
00260702 - PubMed: Sharma 2015 - M ? India India (living in Singapore) - 0 - - IMD-27B - 1 1 LOVD
00260703 - PubMed: Antonietti 2015 - F no (France) Chechnya - 0 - - IMD-27B - 1 1 LOVD
00260704 - Journal: Pac 2012 - F no Poland - - 0 - - IMD-27B - 1 1 LOVD
00260705 Pat6 PubMed: Hoshina 2011 - M ? Japan - - 0 - - IMD-27B - 1 1 LOVD
00260706 - PubMed: Wang 2012 1 family, 3 patients M no Taiwan - - 0 - - IMD-27B - 1 3 LOVD
00260707 - personal communication allele identified heterozygously in exome sequencing M no Netherlands - - 0 - - ? unrelated to mutation; unknown, allele not detected homozygously yet 1 1 LOVD
00260708 - E. van de Vosse -unpublished data - F ? Germany - - 0 - - IMD-27B - 1 1 LOVD
00260709 - E. van de Vosse -unpublished data - M no Germany - - 0 - - IMD-27B - 1 1 LOVD
00260710 - PubMed: de Vor 2016 1 family, 3 patients F yes Netherlands Turkey - 0 - - IMD-27A MSMD 1 3 LOVD
00260711 - PubMed: Kong 2010 - F yes Finland - - 0 - - IMD-27A - 1 1 LOVD
00260712 - - - - - Japan - - 0 - - Healthy/Control - 1 1 LOVD
00260713 - PubMed: Holland 1998 PubMed: Bax 2013 1 family, 1 patients +1 deceased sib M yes (Norway) Pakistan: Punjab region - 0 - - IMD-27A B cell lymphoma 1 1 LOVD
00260714 - PubMed: Altare 1998 PubMed: Pierre-Audigier 1997 1 family, 1 patients+3 deceased sibs F no Italy - - 0 - - IMD-27A - 2 1 LOVD
00260715 - PubMed: Dorman 2004 1 family, 2 patients M ? Turkey - - 0 - - IMD-27A - 1 2 LOVD
00260716 - PubMed: Edeer Karaca 2012 - M yes Turkey - - 0 - - IMD-27A - 1 1 LOVD
00260717 - PubMed: Dorman 2004 1 family, 2 patients M ? Greece - - 0 - - IMD-27A - 2 2 LOVD
00260718 - E. van de Vosse -unpublished data - M no Germany - - 0 - - IMD-27A - 2 1 LOVD
00260719 - PubMed: Wang 2014 - F yes China - - 0 - - IMD-27A - 1 1 LOVD
00260720 - PubMed: Jouanguy 1996 - F yes Tunisia - - 0 - - IMD-27A - 1 1 LOVD
00260721 - PubMed: Cunningham 2000 father was not available, so child can be homozygous or have a deletion on the other allele M no Canada aboriginal - 0 - - IMD-27A - 1 1 LOVD
00260722 - PubMed: Dorman 2004 - M ? United States - - 0 - - IMD-27A - 1 1 LOVD
00260723 - PubMed: Jouanguy 2000 - F no (France) French/Portuguese - 0 - - IMD-27A - 2 1 LOVD
00260724 - PubMed: Allende 2001 - F yes Spain Spain - 0 - - IMD-27A - 1 1 LOVD
00260725 - PubMed: Sologuren 2011 1 family, 2 patients M no Spain - - 0 - - IMD-27A - 1 2 LOVD
00260726 - PubMed: Sologuren 2011 - F no Spain - - 0 - - IMD-27A - 1 1 LOVD
00260727 - PubMed: Sologuren 2011 - M no Spain - - 0 - - IMD-27A - 1 1 LOVD
00260728 - PubMed: Sologuren 2011 - M no Spain - - 0 - - IMD-27A - 1 1 LOVD
00260729 - PubMed: Holland 1998 PubMed: Dorman 1999 - M - (United States) Pakistan (original: Punjab, India) - 0 - - IMD-27A - 1 1 LOVD
00260730 - PubMed: Jouanguy 2000 PubMed: Camcioglu 2004 1 family, 2 patients F yes Turkey - - 0 - - IMD-27A - 1 2 LOVD
00260731 - PubMed: Chantrain 2006 - M yes (Belgium) - - 0 - - IMD-27A - 1 1 LOVD
00260732 - PubMed: Noordzij 2007 1 family, 1 patients+3deceased sibs; 2 sibs died after BCG vaccination; 1 after diarrhea (due to Salmonella?) F yes (Netherlands) Pakistan - 0 - - IMD-27A - 1 1 LOVD
00260733 - PubMed: Jouanguy 1997 and PubMed: Sologuren 2011 1 family, 2 patients; 9389728-P1 and P2 first reported in Jouanguy et al 1997 and also reported as 21266457-X.1 and X.2 in Sologuren et al 2011 M yes Portugal - - 0 - - IMD-27A - 1 2 LOVD
00260734 - PubMed: Remiszewski 2006 and PubMed: Sologuren 2011 This patient first reported by Remiszewski et al 2006 and also reported by Sologuren et al 2011 as patient XI.1 F no Poland - - 0 - - IMD-27A - 1 1 LOVD
00260735 - PubMed: Sologuren 2011 - M yes Chile - - 0 - - IMD-27A - 1 1 LOVD
00260736 - PubMed: Sologuren 2011 - F yes Portugal - - 0 - - IMD-27A - 1 1 LOVD
00260737 - PubMed: Sologuren 2011 - M no Chile - - 0 - - IMD-27A - 1 1 LOVD
00260738 - PubMed: Sologuren 2011 - F no Chile - - 0 - - IMD-27A - 1 1 LOVD
00260739 - PubMed: Sologuren 2011 PubMed: Bernatowska 2007 1 family, 2 patients M yes Portugal Azores - 0 - - IMD-27A - 1 2 LOVD
00260740 - PubMed: Jouanguy 2000 - F yes Algeria - - 0 - - IMD-27A living in France 1 1 LOVD
00260741 - PubMed: Prando 2010 - M no Italy - - 0 - - IMD-27A - 1 1 LOVD
00260742 - PubMed: Newport 1996 1 family, 3 patients M yes Malta - - 0 - - IMD-27A - 1 3 LOVD
00260743 - PubMed: Newport 1996 - F yes Malta - - 0 - - IMD-27A - 1 1 LOVD
00260744 - PubMed: Roesler 1999 - F no Germany - - 0 - - IMD-27A - 2 1 LOVD
00260745 - PubMed: Noordzij 2007 B cell lymphoma described in {PMID23800860:Bax 2013} M no Netherlands - - 0 - - IMD-27A NTM infections and B cell lymphoma 1 1 LOVD
00260746 - PubMed: Hartwig 2011 - M no Netherlands - - 0 - - IMD-27A - 1 1 LOVD
00260747 - van de Vosse, personal communication - F ? Viet Nam Viet Nam - 0 - - IMD-28 - 1 1 LOVD
00260748 - PubMed: Tsolia 2006 - M yes Greece - - 0 - - IMD-27A - 1 1 LOVD
00260749 - PubMed: Koscielniak 2003 - M no Italy - - 0 - - IMD-27A - 1 1 LOVD
00260750 - PubMed: Dorman 2004 - M ? Greece - - 0 - - IMD-27A - 1 1 LOVD
00260751 - PubMed: Marazzi 2009 - M ? Italy - - 0 - - IMD-27A - 1 1 LOVD
00260752 - PubMed: Taramasso 2014 - M ? (Italy) - - 0 - - IMD-27A M.scrofulaceum multifocal osteomyelitis. intracranial tumour (pineal germinoma) 1 1 LOVD
00260753 - PubMed: Olbrich 2015 PubMed: Olbrich 2016 - M no (Spain) - - 0 - - IMD-27A Salmonella gastroenteritis; disseminated M.fortuitum, Influenza A 2 1 LOVD
00260754 - PubMed: Dorman 2000 - - - Argentina - - 0 - - IMD-27A - 1 1 LOVD
00260755 - PubMed: Rosenzweig 2002 - F no Argentina - - 0 - - IMD-27A - 1 1 LOVD
00260756 - PubMed: Kong 2013 - F yes Morocco - - 0 - - SPG The M.bovis BCG lymphadenitis is unlikely to be due to the variant identified in IFNGR1 1 2 LOVD
00260757 - PubMed: Tesi 2015 - F no China Chinese (living in Italy) 4y 0 - - IMD-27A EBV and disseminated M.tuberculosis 1 1 LOVD
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