کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3374955 1219655 2012 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Pulmonary Mycobacterium abscessus: A canary in the cystic fibrosis coalmine
موضوعات مرتبط
علوم زیستی و بیوفناوری ایمنی شناسی و میکروب شناسی میکروبیولوژی و بیوتکنولوژی کاربردی
پیش نمایش صفحه اول مقاله
Pulmonary Mycobacterium abscessus: A canary in the cystic fibrosis coalmine
چکیده انگلیسی

SummaryWe present a case of pulmonary nontuberculous mycobacterial infection (PNTM) with M. abscessus. After exclusion of genetic immune disorders known to cause NTM susceptibility, we found compound heterozygosity of two mutations, F508del and R117H in CFTR. The combination of F508del with a hypomorphic CFTR mutation can cause a mild Cystic Fibrosis (CF) phenotype with delayed CF symptoms in adulthood. Although the patient was continuously treated for her lung infection by different physicians for more than twenty years, the diagnosis CF had been missed. The forme fruste of CF should be considered in the analysis of host factors predisposing for PNTM.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Infection - Volume 64, Issue 6, June 2012, Pages 609–612
نویسندگان
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