Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy and enteropathy, and implications for clinical management

Immune dysregulation, polyendocrinopathy or enteropathy in many pediatric patients results from a mutation with severe clinical effect. Identification of these causal mutations enables treatment based on genotype, supporting a genetics-first approach to diagnosis.

Source: Journal of Allergy and Clinical Immunology - April 14, 2021 Category: Allergy & Immunology Authors: Sarah K. Baxter, Tom Walsh, Silvia Casadei, Mary M. Eckert, Eric J. Allenspach, David Hagin, Gesmar Segundo, Ming K. Lee, Suleyman Gulsuner, Brian H. Shirts, Kathleen E. Sullivan, Michael D. Keller, Troy R. Torgerson, Mary-Claire King Source Type: research