Novel STAT3 variant causing infantile-onset autoimmune disease

Authors

Miao Pan, Division of Pathology and Laboratory Medicine, Children's National Hospital, George Washington University, Washington, DC, United States.
Justin Kurtz, Division of Pathology and Laboratory Medicine, Children's National Hospital, George Washington University, Washington, DC, United States.

Document Type

Journal Article

Publication Date

1-1-2023

Journal

Frontiers in medicine

Volume

10

DOI

10.3389/fmed.2023.1251088

Keywords

SH2; STAT3; autoimmune; infantile-onset; sequencing

Abstract

Signal transducer and activator of transcription 3 () is a member of the STAT protein family implicated in the development of infantile-onset multisystem autoimmune disease. -related autoimmune disease is characterized by multiorgan autoimmunity, lymphoproliferative disease, and recurrent infections. The presentation is variable, with some patients also developing neonatal diabetes mellitus and interstitial lung disease. Gain-of-function variants in the Src homology 2 domain, leading to autophosphorylation and activation of , have been previously reported in patients with disease. Here, we report a patient with a novel missense variant, p.Glu616Ala, in presenting with infantile-onset multisystem autoimmune disease.

APA Citation

Pan, Miao and Kurtz, Justin, "Novel STAT3 variant causing infantile-onset autoimmune disease" (2023). GW Authored Works. Paper 3823.
https://hsrc.himmelfarb.gwu.edu/gwhpubs/3823

Department

Pathology