Article

Genetic and Functional Identifying of Novel Autosomal Dominant STAT1 Loss-of-function Mutations in Patients with Diverse Clinical Phenotypes

2022-03-07

Abstract excerpt

<title>Abstract</title> <p><bold>Purpose </bold>Mutations in Signal transducer and activator of transcription 1 (STAT1) cause a broad spectrum of disease phenotypes. Heterozygous <italic>STAT1</italic> loss-of-function (LOF) mutations cause Mendelian susceptibility to mycobacterial diseases (MSMD) and <italic>Salmonella</italic> infection, both of which are attributable to impaired IFN-γ signaling. The identifica...

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Literature Corpus work: 24931b97-0e7a-5a38-8576-88d68baa0beb
DOI: 10.21203/rs.3.rs-1291912/v1

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