AUTHOR=Pan Miao , Kurtz Justin 

TITLE=Novel STAT3 variant causing infantile-onset autoimmune disease

JOURNAL=Frontiers in Medicine

VOLUME=10

YEAR=2023

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2023.1251088

DOI=10.3389/fmed.2023.1251088

ISSN=2296-858X

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