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

Rintaro OnoMiyuki TsumuraSaho ShimaYusuke MatsudaKenji GotohYurina MiyataYuko YotoDan TomomasaTakanori UtsumiHidenori OhnishiZenichiro KatoNaruhiko IshiwadaAki IshikawaTaizo WadaHisashi UharaRyuta NishikomoriDaisuke HasegawaSatoshi OkadaHirokazu Kanegane

Published in: Journal of clinical immunology (2022)

Four kindred MSMD subjects with 3 novel variants and 1 known variant in STAT1 were identified in this study. AD STAT1 deficiency might be prevalent in Japanese patients with BCG-associated MSMD.

Keyphrases

cell proliferation
copy number
mycobacterium tuberculosis
gene expression
replacement therapy