Article
A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations.
The Journal of clinical investigation - 1 Dec 2017
Hoyos-Bachiloglu Rodrigo, Chou Janet, Sodroski Catherine N, Beano Abdallah, Bainter Wayne, Angelova Magdalena, Al Idrissi Eman, Habazi Murad K, Alghamdi Hamza Ali, Almanjomi Fahd, Al Shehri Mohamed, Elsidig Nagi, Alaa Eldin Morsi, Knipe David M, AlZahrani Mofareh, Geha Raif S
Abstract excerpt
Primary immunodeficiencies are often monogenic disorders characterized by vulnerability to specific infectious pathogens. Here, we performed whole-exome sequencing of a patient with disseminated Mycobacterium abscessus, Streptococcus viridians bacteremia, and cytomegalovirus (CMV) viremia and identified mutations in 2 genes that regulate distinct IFN pathways. The patient had a homozygous frameshift deletion in...
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