Article
DNA-Binding domain mutations confer severe outcome at an early age among STAT1 gain-of-function patients.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 1 Jan 2022
Scott Ori, Dadi Harjit, Vong Linda, Pasternak Yehonatan, Garkaby Jenny, Willett Pachul Jessica, Mandola Amarilla B, Brager Rae, Hostoffer Robert, Nahum Amit, Roifman Chaim M
Abstract excerpt
BACKGROUND: STAT1 gain-of-function (GOF) is an immune dysregulatory disorder with poorly studied genotype-phenotype correlation, impeding prognostication and early intervention. Given previous mechanistic studies, as well as anecdotal clinical reports, we sought to systematically determine whether DNA-binding domain (DBD) mutations in STAT1 result in a different phenotype than mutations in other gene domains....
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