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Article

Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases.

Journal of clinical immunology - 1 Feb 2023

Ono Rintaro, Tsumura Miyuki, Shima Saho, Matsuda Yusuke, Gotoh Kenji, Miyata Yurina, Yoto Yuko, Tomomasa Dan, Utsumi Takanori, Ohnishi Hidenori, Kato Zenichiro, Ishiwada Naruhiko, Ishikawa Aki, Wada Taizo, Uhara Hisashi, Nishikomori Ryuta, Hasegawa Daisuke, Okada Satoshi, Kanegane Hirokazu

Abstract excerpt

PURPOSE: Heterozygous dominant-negative (DN) STAT1 variants are responsible for autosomal dominant (AD) Mendelian susceptibility to mycobacterial disease (MSMD). In this paper, we describe eight MSMD cases from four kindreds in Japan. METHODS: An inborn error of immunity-related gene panel sequencing was performed using genomic DNA extracted from whole blood samples. The identified variants were validated using...

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PMID: 36336768
DOI: 10.1007/s10875-022-01396-1

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