Article

Three patients with defects in interferon gamma receptor signaling: a challenging diagnosis

2021-10-31

Abstract excerpt

<h4>Background: </h4> Defects in IFN–gamma receptor (IFN-γR) signaling via STAT1 leads to susceptibility to infection by otherwise weak pathogenic mycobacteria, resulting in mendelian susceptibility to mycobacterial disease. We identified three patients presented with disseminated mycobacterial infections caused by M. avium, M. persicum or M. bovis BCG respectively. Whole-exome sequencing (WES) was used as the fir...

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Literature Corpus work: 13b6b706-fdc8-5928-ab5a-903a28cba774
DOI: 10.22541/au.163570579.94499972/v1

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