A novel gain-of-function STAT3 variant in infantile-onset diabetes associated with multiorgan autoimmunity.

ABSTRACT:

Background

Germline gain-of-function (GOF) variants in the signal transducer and activator of transcription 3 (STAT3) gene lead to a rare inherited disorder characterized by early-onset multiorgan autoimmunity.

Methods

We described a Chinese patient with infantile-onset diabetes and multiorgan autoimmunity. The patient presented with early-onset type 1 diabetes and autoimmune hypothyroidism at 7 months. During the 7.5-year follow-up, she developed pseudo-celiac enteropathy at 1 year of age and showed severe growth retardation. Whole-exome sequencing was performed and the novel variant was further assessed by in vitro functional assays.

Results

Whole-exome sequencing revealed a novel variant (c.1069G>A, p.Glu357Lys) in the DNA-binding domain of STAT3. In vitro function

SUBMITTER: Zhou Q 

PROVIDER: S-EPMC10895381 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature