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Article

A novel STAT1 loss-of-function mutation associated with Mendelian susceptibility to mycobacterial disease.

Frontiers in cellular and infection microbiology - 1 Jan 2022

Ye Fanghua, Zhang Wen, Dong Jiajia, Peng Min, Fan Chenying, Deng Wenjun, Zhang Hui, Yang Liangchun

Abstract excerpt

Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare congenital immune deficiency characterized by susceptibility to weakly virulent mycobacteria. Loss-of-function (LOF) mutation of signal transducer and activator of transcription 1 (STAT1) is one of the common genetic causes of MSMD. In this study, we identified a patient who presented with multiple lymph node enlargements and multiple osteolytic...

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Identifiers

PMID: 36339330
DOI: 10.3389/fcimb.2022.1002140
PMCID: PMC9635896

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