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Article

Prenatal Autoimmune Disease, Multisystem, Infantile Onset-like Phenotype and Proximal Renal Tubular Dysplasia Associated With STAT3 Mutation.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Aug 2020

Terry Jefferson, Langlois Sylvie, Rupps Rosemarie, Gill Harinder

Abstract excerpt

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...

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PMID: 31771449
DOI: 10.1177/1093526619890734

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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