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Article

In cis "benign" SOCS1 variants linked to enhanced interferon signaling and autoimmunity.

Journal of autoimmunity - 1 Nov 2023

Du Yan, Brodeur Kailey E, Hsu Evan, Chen Liang, Chen Qian, Liu Meng, Cheng Qi, Rosen Seymour, Michniacki Thomas F, Chou Janet, Lo Mindy S, Platt Craig D, Lee Pui Y

Abstract excerpt

We aimed to characterize the genetic basis of disease in a family with multiple autoimmune manifestations, including systemic lupus erythematosus (SLE), immune thrombocytopenia, and autoimmune thyroiditis. Whole exome sequencing (WES) was conducted to identify candidate variants, which were analyzed by flow cytometry, immunoblotting, immunoprecipitation, and luciferase reporter assay in transfected 293T cells....

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Identifiers

PMID: 37797401
DOI: 10.1016/j.jaut.2023.103119
PMCID: PMC10987394

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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