Disease #04508 (IMD-27B (immunodeficiency, type 27B, mycobacteriosis, autosomal dominant (IMD-27B)), OMIM:615978)

Official abbreviation IMD-27B
Name immunodeficiency, type 27B, mycobacteriosis, autosomal dominant (IMD-27B)
OMIM ID 615978
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 54
Phenotype entries for this disease 42
Associated with 1 gene IFNGR1
Associated tissues -
Disease features -
Remarks -


Individuals

54 entries on 1 page. Showing entries 1 - 54.
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00260659 - PubMed: Jouanguy 1999 1 family, 3 patients F no Ireland - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 3 LOVD
00260660 - PubMed: Jouanguy 1999 1 family, 2 patients F no Ireland - - 0 - - IMD-27B - IFNGR1 IFNGR1 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 - IFNGR1 IFNGR1 1 3 LOVD
00260662 - PubMed: Jouanguy 1999 - F no Italy - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260663 - PubMed: Jouanguy 1999 - F no Morocco - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260664 - PubMed: Jouanguy 1999 - M no Sweden - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260665 - PubMed: Jouanguy 1999 - M no United Kingdom (Great Britain) - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260666 - PubMed: Jouanguy 1999 - F no United States - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260667 - PubMed: Jouanguy 1999 PubMed: Zerbe 2005 - M no United States - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260668 - PubMed: Jouanguy 1999 - M no United States - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260669 - PubMed: Jouanguy 1999 - M no United States - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260670 - PubMed: Jouanguy 1999 - M no United Kingdom (Great Britain) - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260671 - PubMed: Dorman 2000 - - no ? (unknown) Korean/African - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260672 - PubMed: Arend 2001 1 family, 2 patients F ? Netherlands - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 2 LOVD
00260673 - PubMed: Arend 2001 1 family, 4 patients M no Netherlands - - 0 - - IMD-27B - IFNGR1 IFNGR1 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 - IFNGR1 IFNGR1 1 3 LOVD
00260675 - PubMed: Villella 2001 - F ? United States white - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260676 - PubMed: Edgar 2001 1 family, 2 patients F ? (United Kingdom (Great Britain)) - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 2 LOVD
00260677 - PubMed: Edgar 2001 - F ? (United Kingdom (Great Britain)) - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260678 - PubMed: Sasaki 2002 - F ? Japan - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260679 - PubMed: Sasaki 2002 1 family, 2 patients M ? Japan - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 2 LOVD
00260680 - PubMed: Sasaki 2002 - M ? Japan - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260681 - PubMed: Waibel 2002 1 family, 2 patients F ? (United States) - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 2 LOVD
00260682 - PubMed: Dorman 2004 1 family, 2 patients M ? United States - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 2 LOVD
00260683 - PubMed: Dorman 2004 - M ? United States - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260684 - PubMed: Dorman 2004 1 family, 2 patients M ? United States - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 2 LOVD
00260685 - PubMed: Dorman 2004 - M ? India - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260686 - PubMed: Dorman 2004 - F ? France - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260687 - PubMed: Dorman 2004 1 family, 2 patients F ? Germany - - 0 - - IMD-27B - IFNGR1 IFNGR1 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 - IFNGR1 IFNGR1 1 2 LOVD
00260689 - PubMed: Okada 2007 - F ? Japan - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260690 - PubMed: Han 2004 1 family, 2 patients+1 deceased sib M ? (United States) - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 2 LOVD
00260691 - PubMed: Glosli 2008 1 family, 4 patients+1 asymptomatic F no Norway - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 4 LOVD
00260692 - PubMed: Lee 2008 1 family, 2 patients M ? Taiwan - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 2 LOVD
00260693 - PubMed: Lee 2008 - F ? Taiwan - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260694 - PubMed: Vinh 2009 - M ? United States white - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260695 - PubMed: Auld 2011 1 family, 2 patients F ? Australia - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 2 LOVD
00260696 - PubMed: Muszlak 2007 - F no Comoros - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260697 - PubMed: Obinata 2012 - M no Japan - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260698 - PubMed: Obinata 2012 - F no Japan - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260699 - PubMed: Rose 2014 - M ? United States white - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260700 - PubMed: Takeda 2014 1 family, 2 patients F no Japan - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 2 LOVD
00260701 - PubMed: Quispel 2014 - M no Netherlands - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260702 - PubMed: Sharma 2015 - M ? India India (living in Singapore) - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260703 - PubMed: Antonietti 2015 - F no (France) Chechnya - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260704 - Journal: Pac 2012 - F no Poland - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260705 Pat6 PubMed: Hoshina 2011 - M ? Japan - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260706 - PubMed: Wang 2012 1 family, 3 patients M no Taiwan - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 3 LOVD
00260708 - E. van de Vosse -unpublished data - F ? Germany - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260709 - E. van de Vosse -unpublished data - M no Germany - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00260760 - PubMed: Quispel 2014 - M no Netherlands - - 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 LOVD
00324169 P1 PubMed: Parackova 2020 1 family, 1 patient + 1 asymptomatic F no Czech Republic - >17y 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 Esther van de Vosse
00324171 P1 PubMed: Dotta 2020 - F no Pakistan - >04y 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 Esther van de Vosse
00324178 girl PubMed: Glanzmann 2018 - F no South Africa mixed ethnicity >15y 0 - - IMD-27B - IFNGR1 IFNGR1 1 1 Esther van de Vosse
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