Disease #01676 (IMD27A (immunodeficiency, type 27A, mycobacteriosis, AR (IMD-27A)), OMIM:209950)

Official abbreviation IMD27A
Name immunodeficiency, type 27A, mycobacteriosis, AR (IMD-27A)
OMIM ID 209950
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 57
Phenotype entries for this disease 47
Associated with 1 gene IFNGR1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

57 entries on 1 page. Showing entries 1 - 57.
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00260710 - PubMed: de Vor 2016 1 family, 3 patients F yes Netherlands Turkey - - - - IMD27A MSMD IFNGR1 IFNGR1 1 3 LOVD
00260711 - PubMed: Kong 2010 - F yes Finland - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260713 - PubMed: Holland 1998 PubMed: Bax 2013 1 family, 1 patients +1 deceased sib M yes (Norway) Pakistan: Punjab region - - - - IMD27A B cell lymphoma IFNGR1 IFNGR1 1 1 LOVD
00260714 - PubMed: Altare 1998 PubMed: Pierre-Audigier 1997 1 family, 1 patients+3 deceased sibs F no Italy - - - - - IMD27A - IFNGR1 IFNGR1 2 1 LOVD
00260715 - PubMed: Dorman 2004 1 family, 2 patients M ? Turkey - - - - - IMD27A - IFNGR1 IFNGR1 1 2 LOVD
00260716 - PubMed: Edeer Karaca 2012 - M yes Turkey - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260717 - PubMed: Dorman 2004 1 family, 2 patients M ? Greece - - - - - IMD27A - IFNGR1 IFNGR1 2 2 LOVD
00260718 - E. van de Vosse -unpublished data - M no Germany - - - - - IMD27A - IFNGR1 IFNGR1 2 1 LOVD
00260719 - PubMed: Wang 2014 - F yes China - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260720 - PubMed: Jouanguy 1996 - F yes Tunisia - - - - - IMD27A - IFNGR1 IFNGR1 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 - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260722 - PubMed: Dorman 2004 - M ? United States - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260723 - PubMed: Jouanguy 2000 - F no (France) French/Portuguese - - - - IMD27A - IFNGR1 IFNGR1 2 1 LOVD
00260724 - PubMed: Allende 2001 - F yes Spain Spain - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260725 - PubMed: Sologuren 2011 1 family, 2 patients M no Spain - - - - - IMD27A - IFNGR1 IFNGR1 1 2 LOVD
00260726 - PubMed: Sologuren 2011 - F no Spain - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260727 - PubMed: Sologuren 2011 - M no Spain - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260728 - PubMed: Sologuren 2011 - M no Spain - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260729 - PubMed: Holland 1998 PubMed: Dorman 1999 - M - (United States) Pakistan (original: Punjab, India) - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260730 - PubMed: Jouanguy 2000 PubMed: Camcioglu 2004 1 family, 2 patients F yes Turkey - - - - - IMD27A - IFNGR1 IFNGR1 1 2 LOVD
00260731 - PubMed: Chantrain 2006 - M yes (Belgium) - - - - - IMD27A - IFNGR1 IFNGR1 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 - - - - IMD27A - IFNGR1 IFNGR1 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 - - - - - IMD27A - IFNGR1 IFNGR1 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 - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260735 - PubMed: Sologuren 2011 - M yes Chile - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260736 - PubMed: Sologuren 2011 - F yes Portugal - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260737 - PubMed: Sologuren 2011 - M no Chile - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260738 - PubMed: Sologuren 2011 - F no Chile - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260739 - PubMed: Sologuren 2011 PubMed: Bernatowska 2007 1 family, 2 patients M yes Portugal Azores - - - - IMD27A - IFNGR1 IFNGR1 1 2 LOVD
00260740 - PubMed: Jouanguy 2000 - F yes Algeria - - - - - IMD27A living in France IFNGR1 IFNGR1 1 1 LOVD
00260741 - PubMed: Prando 2010 - M no Italy - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260742 - PubMed: Newport 1996 1 family, 3 patients M yes Malta - - - - - IMD27A - IFNGR1 IFNGR1 1 3 LOVD
00260743 - PubMed: Newport 1996 - F yes Malta - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260744 - PubMed: Roesler 1999 - F no Germany - - - - - IMD27A - IFNGR1 IFNGR1 2 1 LOVD
00260745 - PubMed: Noordzij 2007 B cell lymphoma described in {PMID23800860:Bax 2013} M no Netherlands - - - - - IMD27A NTM infections and B cell lymphoma IFNGR1 IFNGR1 1 1 LOVD
00260746 - PubMed: Hartwig 2011 - M no Netherlands - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260748 - PubMed: Tsolia 2006 - M yes Greece - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260749 - PubMed: Koscielniak 2003 - M no Italy - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260750 - PubMed: Dorman 2004 - M ? Greece - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260751 - PubMed: Marazzi 2009 - M ? Italy - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260752 - PubMed: Taramasso 2014 - M ? (Italy) - - - - - IMD27A M.scrofulaceum multifocal osteomyelitis. intracranial tumour (pineal germinoma) IFNGR1 IFNGR1 1 1 LOVD
00260753 - PubMed: Olbrich 2015 PubMed: Olbrich 2016 - M no (Spain) - - - - - IMD27A Salmonella gastroenteritis; disseminated M.fortuitum, Influenza A IFNGR1 IFNGR1 2 1 LOVD
00260754 - PubMed: Dorman 2000 - - - Argentina - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260755 - PubMed: Rosenzweig 2002 - F no Argentina - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260757 - PubMed: Tesi 2015 - F no China Chinese (living in Italy) 4y - - - IMD27A EBV and disseminated M.tuberculosis IFNGR1 IFNGR1 1 1 LOVD
00260758 - PubMed: Gutierrez 2016 - M no (United States) not reported - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260759 - PubMed: Ward 2007 - F yes United States Hispanic - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00260762 - PubMed: Galal 2012 - F yes Egypt - - - - - IMD27A - IFNGR1 IFNGR1 1 1 LOVD
00324168 P1 = IV.3 PubMed: Kerner 2020 1 family 2 patients - yes Lebanon - 03y - - - IMD27A - IFNG IFNG 1 1 Esther van de Vosse
00324170 Patient PubMed: Khanolkar 2020 - F - United States - >05y - - - IMD27A - IFNGR1 IFNGR1 2 1 Esther van de Vosse
00324172 III.1 PubMed: Bossi 2020 - M no Italy - - - - - IMD27A - IFNGR1 IFNGR1 2 1 Esther van de Vosse
00324173 P23 PubMed: Ying 2019 - F no China - >07y - - - IMD27A - IFNGR1 IFNGR1 2 1 Esther van de Vosse
00324174 P24 PubMed: Ying 2019 - F ? China - >07y - - - IMD27A - IFNGR1 IFNGR1 1 1 Esther van de Vosse
00324175 P25 PubMed: Ying 2019 - F - China - 06y - - - IMD27A - IFNGR1 IFNGR1 1 1 Esther van de Vosse
00324176 P26 PubMed: Ying 2019 - M - China - 00y08m - - - IMD27A - IFNGR1 IFNGR1 2 1 Esther van de Vosse
00324177 P27 PubMed: Ying 2019 - M - China - >00y06m - - - IMD27A - IFNGR1 IFNGR1 1 1 Esther van de Vosse
00324179 Patient PubMed: Martinez-Morales 2017 - F - Mexico - >00y03m - - - IMD27A - IFNGR1 IFNGR1 1 1 Esther van de Vosse
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