کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3374793 1219648 2012 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency
موضوعات مرتبط
علوم زیستی و بیوفناوری ایمنی شناسی و میکروب شناسی میکروبیولوژی و بیوتکنولوژی کاربردی
پیش نمایش صفحه اول مقاله
Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency
چکیده انگلیسی

SummaryMendelian susceptibility to mycobacterial diseases (MSMD) is a rare syndrome characterized by predisposition to severe, sometimes lethal, disease caused by otherwise poorly virulent mycobacteria. We report here a boy with a recurrent mycobacterial infection from the age of five months. Immunological analyses revealed an inability to respond to IFN-γ, subsequent genetic analyses revealed a novel homozygous mutation, r.679G > A in the IFNGR2 gene, resulting in a G227R substitution, that caused IFN-γR2 deficiency. This is only the 8th mutation in IFN-γR2 known so far. The boy eventually died of hepatic coma due to liver failure at the age of five.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Infection - Volume 65, Issue 6, December 2012, Pages 568–572
نویسندگان
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