Disease #04677

Official abbreviation IMD-31A
Name immunodeficiency, type 31A, mycobacteriosis, autosomal dominant (IMD-31A)
OMIM ID 614892
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 8
Phenotype entries for this disease 8
Associated with 1 gene STAT1
Associated tissues -
Disease features -
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Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00080572 - {PMID 11452125:Dupuis 2001} autosomal dominant, partial STAT1 defectalso son reported later as asymptomatic: 16934001-Pat_C.III.2 F - France - - 0 - - IMD-31A mycobacteriosis STAT1 STAT1 1 1 Johan den Dunnen
00080573 - {PMID 11452125:Dupuis 2001} family, 1 affected F - United States - - 0 - - IMD-31A mycobacteriosis STAT1 STAT1 1 1 Johan den Dunnen
00080577 - {PMID16934001:Chapgier 2006b} family, 3 affecteds F - Germany - - 0 - - IMD-31A mycobacteriosis STAT1 STAT1 1 3 Johan den Dunnen
00080578 - PubMed: Chapgier 2006b family, 1 affected, 2 asymptomatic M no Germany - - 0 - - IMD-31A mycobacteriosis STAT1 STAT1 1 1 Johan den Dunnen
00080612 - {PMID 22573496:Tsumura 2012} family, 2 affected, 1 asymptomatic M no Japan - - 0 - - IMD-31A mycobacteriosis STAT1 STAT1 1 2 Esther van de Vosse
00080613 - PubMed: Tsumura 2012 family, 1 affected F yes Saudi Arabia - - 0 - - IMD-31A mycobacteriosis STAT1 STAT1 1 1 Esther van de Vosse
00080614 - {PMID22437822:Sampaio 2012} family, 1 affected M no (United States) - - 0 - - IMD-31A mycobacteriosis STAT1 STAT1 1 1 Esther van de Vosse
00080617 - PubMed: Hirata 2013 family, 2 affecteds M no Japan - - 0 - - IMD-31A mycobacteriosis STAT1 STAT1 1 2 Esther van de Vosse
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