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Bronchiectasis and Recurrent Respiratory Infections with a De Novo STAT1 Gain-of-Function Variant: First Case in Korea

Yonsei Medical Journal 2018년 59권 8호 p.1004 ~ 1007
KMID : 0311120180590081004
 ( Huh Hee-Jae ) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Laboratory Medicine and Genetics

 ( Jhun Byung-Woo ) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Medicine
 ( Choi Sae-Rom ) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Pediatrics
 ( Kim Yae-Jean ) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Pediatrics
 ( Yun Sun-Ae ) - Samsung Medical Center Samsung Biomedical Research Institute
 ( Nham Eliel ) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Medicine
 ( Kong Tae-Hwan ) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Medicine
 ( Ki Chang-Seok ) - Green Cross Genome
 ( Koh Won-Jung ) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Medicine

Abstract

Bronchiectasis is a chronic disease characterized by airway infection and inflammation, leading to permanent dilation of the bronchi. Evaluation of underlying etiology is important in managing young bronchiectasis patients with recurrent infections caused by unusual pathogens. The signal transducer and activator of transcription 1 (STAT1) protein plays a key role in STAT signaling and immune system regulation. Heterozygotes for gain-of-function (GOF) alleles of the STAT1 gene usually display autosomal dominant chronic mucocutaneous candidiasis (CMC) and a wide range of clinical features, such as bronchiectasis. Here, we report on a patient with CMC and bronchiectasis with various types of infections who carried a pathogenic variant of the STAT1 gene. The 24-year-old female presented with recurrent respiratory bacterial and nontuberculous mycobacterial infections complicated by severe bronchiectasis and CMC. Whole-exome sequencing revealed a c.800C>T (p.Ala267Val) heterozygous mutation in the STAT1 gene. Further analysis by Sanger sequencing of STAT1 from the patient and her parents revealed the patient had a de novo occurrence of the variant. This is the first report of a Korean patient with a GOF pathogenic variant in STAT1. Physicians should be aware of the existence of this variant as a genetic factor associated with CMC and bronchiectasis complicated by recurrent infection.
KeyWords

Bronchiectasis, chronic mucocutaneous candidiasis, gain-of-function mutation, nontuberculous mycobacteria, STAT1 transcription factor
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