A Novel Variant in the STAT3 Gene Associated with Autoimmune Enteropathy in a Father-Son Duo.

Autoimmune enteropathy (AIE) is a rare clinical condition characterized by intractable diarrhea of early childhood. While AIE can featureboth simple Mendelian inheritance or a complex multifactorial pattern, the pathogenesis remains unclear in many cases. This is important for providing anaccurate recurrence risk as affected individuals survive until adulthood and have children. Here, we describe a father and son with AIE who had clinicallydistinct courses. Exome sequencing has revealed a novel missense variant, c.2147C>T; (p.Thr716Met) in the signal transducer and activator of transcription3 gene (STAT3) in both the father and son, consistent with autosomal dominant inheritance. STAT3 regulates immune reactions, and mutations in thisgene have previously been associated with autoimmunity and Hyper IgE syndrome, but not AIE. Further studies are needed to assess the functional effectof this variant as it relates to the phenotype. [ABSTRACT FROM AUTHOR]