Novel STAT3 variant causing infantile-onset autoimmune disease

被引：1

作者：

Pan, Miao ^{[1
,2
,3
]}

Kurtz, Justin ^{[1
,2
,3
]}

机构：

[1] George Washington Univ, Childrens Natl Hosp, Div Pathol, Washington, DC 20052 USA

[2] George Washington Univ Sch Med & Hlth Sci, Dept Pathol, Washington, DC 20052 USA

[3] George Washington Univ Sch Med & Hlth Sci, Dept Pediat, Washington, DC 20052 USA

来源：

FRONTIERS IN MEDICINE | 2023年 / 10卷

关键词：

STAT3; SH2; infantile-onset; autoimmune; sequencing; MUTATIONS;

D O I：

10.3389/fmed.2023.1251088

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Signal transducer and activator of transcription 3 (STAT3) is a member of the STAT protein family implicated in the development of infantile-onset multisystem autoimmune disease. STAT3-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 STAT3, have been previously reported in patients with disease. Here, we report a patient with a novel missense variant, p.Glu616Ala, in STAT3 presenting with infantile-onset multisystem autoimmune disease.

引用

页数：4

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