We report five new cases of neonatal or early childhood-onset diabetes caused by biallelic pathogenic variants in IL2RA. Autoimmune diabetes was the presenting feature in most individuals and occurs in 64% of all reported cases of immunodeficiency 41. Patients typically presented in infancy with diabetic ketoacidosis, low C-peptide, and GAD antibody positivity, highlighting an autoimmune etiology. The diabetes phenotype was consistent across cases but not linked to variant type or location. IL2R
Biallelic Pathogenic Variants in IL2RA Cause Neonatal-Onset Monogenic Autoimmune Diabetes
Georgia Bonfield·Bart O. Roep.·Andrew T. Hattersley·Suraj Ramchand·Amber M Luckett·Rebecca Dobbs·Phuong TK Nguyen·Michelle Hudson·KG Ravikumar·Noel G. Morgan·Asma Deeb·Elisa De Franco·James Russ-Silsby·Megan E. Smithmyer·Matthew B. Johnson·Clara Domingo-Vila·V. Sri Nagesh·Richard A. Oram·Kathleen M. Gillespie·Abhishek Kulkarni·Sarah J. Richardson·Timothy J. McDonald·Matthew N. Wakeling·CATE SPEAKE·Timothy I.M. Tree·Kathryn Murrall
