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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
- 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