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Prenatal Autoimmune Disease, Multisystem, Infantile Onset-like Phenotype and Proximal Renal Tubular Dysplasia Associated With STAT3Mutation

Prenatal Autoimmune Disease, Multisystem, Infantile Onset-like Phenotype and Proximal Renal Tubular Dysplasia Associated With STAT3Mutation

Authors :
Terry, Jefferson
Langlois, Sylvie
Rupps, Rosemarie
Gill, Harinder
Source :
Pediatric and Developmental Pathology; August 2020, Vol. 23 Issue: 4 p306-311, 6p
Publication Year :
2020

Abstract

Activating heterozygous germline mutations in the signal transducer and activator of transcription 3 (STAT3) gene are associated with the rare autoimmune disorder autoimmune disease, multisystem, infantile onset (ADMIO). The phenotype of ADMIO is typified by hypogammaglobulinemia and onset of autoimmune phenomena during early childhood that include diabetes and autoimmune enteritis. This case report describes in utero onset of precocious lymphocyte maturation, autoimmune enteropathy-like inflammation, and proximal renal tubular dysplasia associated with a novel de novo heterozygous STAT3mutation. The findings expand the phenotype associated with activating STAT3mutations and suggest that the impact of the immunological abnormalities associated with ADMIO can begin prior to birth.

Details

Language :
English
ISSN :
10935266 and 16155742
Volume :
23
Issue :
4
Database :
Supplemental Index
Journal :
Pediatric and Developmental Pathology
Publication Type :
Periodical
Accession number :
ejs52572618
Full Text :
https://doi.org/10.1177/1093526619890734