Disease #04509 (IMD28 (immunodeficiency, type 28, mycobacteriosis (IMD-28)), OMIM:614889)

Official abbreviation IMD28
Name immunodeficiency, type 28, mycobacteriosis (IMD-28)
OMIM ID 614889
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 24
Phenotype entries for this disease 23
Associated with 1 gene IFNGR2
Associated tissues -
Disease features -
Remarks -


Individuals

24 entries on 1 page. Showing entries 1 - 24.
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00080794 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - IMD28, Rabson-Mendenhall syndrome Immunodeficiency 28, mycobacteriosis (OMIM:614889), Rabson-Mendenhall syndrome (OMIM:262190) IFNGR2, INSR IFNGR2, INSR 2 1 Daniel Trujillano
00260747 - van de Vosse, personal communication - F ? Viet Nam Viet Nam - 0 - - IMD28 - IFNGR1 IFNGR1 1 1 LOVD
00260761 - van de Vosse, personal communication - M ? Netherlands - - 0 - - IMD28 - IFNGR1 IFNGR1 1 1 LOVD
00260826 - PubMed: Kong 2013 - F no Poland - - 0 - - IMD28 - IFNGR2 IFNGR2 1 1 LOVD
00260828 - PubMed: Holzer 2013 - F - (Germany) - - 0 - - IMD28 disseminated M.bovis BCG; multifocal osteomylitis; recurrent pneumonic infections IFNGR2 IFNGR2 1 1 LOVD
00260829 - PubMed: Tesi 2015 - F yes Portugal - 4m15d 0 - - IMD28 disseminated Mycobacterium bovis; CMV infection; Note: initial diagnosis HLH IFNGR2 IFNGR2 1 1 LOVD
00260832 - PubMed: Kong 2013 - F yes ? (unknown) - - 0 - - IMD28 - IFNGR2 IFNGR2 1 1 LOVD
00260833 - PubMed: Dorman 1998 - M no (United States) - - 0 - - IMD28 complete deficiency IFNGR2 IFNGR2 1 1 LOVD
00260834 - PubMed: Doffinger 2000 - F yes (France) Portuguese - 0 - - IMD28 partial deficiency IFNGR2 IFNGR2 1 1 LOVD
00260835 - PubMed: Moncada-Velez 2013 - M ? Mexico - - 0 - - IMD28 - IFNGR2 IFNGR2 1 1 LOVD
00260836 - PubMed: Vogt 2008 - F yes (France) Lebanon? - 0 - - IMD28 complete IFNGR2 IFNGR2 1 1 LOVD
00260837 - PubMed: Moncada-Velez 2013 - M yes Turkey - - 0 - - IMD28 - IFNGR2 IFNGR2 1 1 LOVD
00260838 - PubMed: Moncada-Velez 2013 - M yes Turkey - - 0 - - IMD28 - IFNGR2 IFNGR2 1 1 LOVD
00260839 - PubMed: Mansouri 2005 - M yes Iran - - 0 - - IMD28 complete IFNGR2 IFNGR2 1 1 LOVD
00260840 - PubMed: Vogt 2005 - M yes Iran - - 0 - - IMD28 complete deficiency IFNGR2 IFNGR2 1 1 LOVD
00260841 - PubMed: Vogt 2005 brother of 15924140-P4 M yes Saudi Arabia - - 0 - - IMD28 complete deficiency IFNGR2 IFNGR2 1 2 LOVD
00260842 - PubMed: Martínez-Barricarte 2014 - M yes Israel Arab 4y6m 0 - - IMD28 - IFNGR2 IFNGR2 1 1 LOVD
00260843 - PubMed: Vogt 2005 - M yes Austria - - 0 - - IMD28 complete deficiency IFNGR2 IFNGR2 1 1 LOVD
00260844 - Journal: Furthner 2007 - M no Romania - - 0 - - IMD28 - IFNGR2 IFNGR2 1 1 LOVD
00260845 - PubMed: Kilic 2012 - M yes Turkey - - 0 - - IMD28 - IFNGR2 IFNGR2 1 2 LOVD
00260846 - PubMed: Kong 2013 - M yes ? (unknown) - - 0 - - IMD28 - IFNGR2 IFNGR2 1 1 LOVD
00260847 - PubMed: Rosenzweig 2004 sister of 15356149-P2 F yes Qatar - - 0 - - IMD28 complete deficiency IFNGR2 IFNGR2 1 2 LOVD
00260848 - PubMed: Toyoda 2010 - M no Japan - - 0 - - IMD28 complete IFNGR2 IFNGR2 1 1 LOVD
00260849 - PubMed: Martínez-Barricarte 2014 - F yes (Israel) Palestinian 5y 0 - - IMD28 MSMD IFNGR2 IFNGR2 1 1 LOVD
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