Novel STAT3 variant causing infantile-onset autoimmune disease

Miao Pan; Justin Kurtz

doi:10.3389/fmed.2023.1251088

Novel STAT3 variant causing infantile-onset autoimmune disease

Front Med (Lausanne). 2023 Nov 9:10:1251088. doi: 10.3389/fmed.2023.1251088. eCollection 2023.

Authors

Miao Pan^{1

2

3}, Justin Kurtz^{1

2

3}

Affiliations

¹ Division of Pathology and Laboratory Medicine, Children's National Hospital, George Washington University, Washington, DC, United States.
² Department of Pathology, The George Washington University School of Medicine and Health Sciences, Washington, DC, United States.
³ Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC, United States.

Abstract

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.

Keywords: SH2; STAT3; autoimmune; infantile-onset; sequencing.

Publication types

Case Reports