All individuals with variants in gene IFNGR2

27 entries on 1 page. Showing entries 1 - 27.
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AscendingIndividual ID     

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Gender     

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Population     

Age at death     

VIP     

Data_av     

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Phenotype details     

Variants     

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Owner     
00080794 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - IMD-28, hyperplasia, pineal, insulin-resistant diabetes mellitus, somatic abnormalities Immunodeficiency 28, mycobacteriosis (OMIM:614889), Rabson-Mendenhall syndrome (OMIM:262190) 1 1 Daniel Trujillano
00260826 - PubMed: Kong 2013 - F no Poland - - 0 - - IMD-28 - 1 1 LOVD
00260827 - - - ? ? - (not applicable) - - 0 - - JBS - 6 1 LOVD
00260828 - PubMed: Holzer 2013 - F - (Germany) - - 0 - - IMD-28 disseminated M.bovis BCG; multifocal osteomylitis; recurrent pneumonic infections 1 1 LOVD
00260829 - PubMed: Tesi 2015 - F yes Portugal - 4m15d 0 - - IMD-28 disseminated Mycobacterium bovis; CMV infection; Note: initial diagnosis HLH 1 1 LOVD
00260830 - PubMed: Louvain de Souza 2017 this patient was previously entered in the database as: UENF - Family 1528 (F1) M yes Brazil - - 0 - - IMD-30 IMD30, IL-12RB1 deficiency, MSMD 1 1 Enrique Medina-Acosta
00260831 - unpublished data Niels Fisker - M yes Iraq Iraqi Arabs living in Denmark - 0 - - JBTS1 IMD28; IFNGR2 deficiency; MSMD 1 3 LOVD
00260832 - PubMed: Kong 2013 - F yes ? (unknown) - - 0 - - IMD-28 - 1 1 LOVD
00260833 - PubMed: Dorman 1998 - M no (United States) - - 0 - - IMD-28 complete deficiency 1 1 LOVD
00260834 - PubMed: Doffinger 2000 - F yes (France) Portuguese - 0 - - IMD-28 partial deficiency 1 1 LOVD
00260835 - PubMed: Moncada-Velez 2013 - M ? Mexico - - 0 - - IMD-28 - 1 1 LOVD
00260836 - PubMed: Vogt 2008 - F yes (France) Lebanon? - 0 - - IMD-28 complete 1 1 LOVD
00260837 - PubMed: Moncada-Velez 2013 - M yes Turkey - - 0 - - IMD-28 - 1 1 LOVD
00260838 - PubMed: Moncada-Velez 2013 - M yes Turkey - - 0 - - IMD-28 - 1 1 LOVD
00260839 - PubMed: Mansouri 2005 - M yes Iran - - 0 - - IMD-28 complete 1 1 LOVD
00260840 - PubMed: Vogt 2005 - M yes Iran - - 0 - - IMD-28 complete deficiency 1 1 LOVD
00260841 - PubMed: Vogt 2005 brother of 15924140-P4 M yes Saudi Arabia - - 0 - - IMD-28 complete deficiency 1 2 LOVD
00260842 - PubMed: Martínez-Barricarte 2014 - M yes Israel Arab 4y6m 0 - - IMD-28 - 1 1 LOVD
00260843 - PubMed: Vogt 2005 - M yes Austria - - 0 - - IMD-28 complete deficiency 1 1 LOVD
00260844 - Journal: Furthner 2007 - M no Romania - - 0 - - IMD-28 - 1 1 LOVD
00260845 - PubMed: Kilic 2012 - M yes Turkey - - 0 - - IMD-28 - 1 2 LOVD
00260846 - PubMed: Kong 2013 - M yes ? (unknown) - - 0 - - IMD-28 - 1 1 LOVD
00260847 - PubMed: Rosenzweig 2004 sister of 15356149-P2 F yes Qatar - - 0 - - IMD-28 complete deficiency 1 2 LOVD
00260848 - PubMed: Toyoda 2010 - M no Japan - - 0 - - IMD-28 complete 1 1 LOVD
00260849 - PubMed: Martínez-Barricarte 2014 - F yes (Israel) Palestinian 5y 0 - - IMD-28 MSMD 1 1 LOVD
00334848 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334857 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
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