Biallelic Pathogenic Variants in IL2RA Cause Neonatal-Onset Monogenic Autoimmune Diabetes

Diabetes 2026 Open access

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Authors: Georgia Bonfield, James Russ‐Silsby, Suraj Ramchand, Amber M Luckett, Matthew Neil Wakeling, Abhishek J. Kulkarni, V Sri Nagesh, Asma Deeb, KG Ravikumar, Phuong TK Nguyen, Andrew Tym Hattersley, Richard A. Oram
+15 more Sarah Elizabeth Flanagan, Elisa De Franco, Matthew B. Johnson, Rebecca Dobbs, Clara Domingo‐Vila, Kathleen M. Gillespie, Michelle Hudson, Timothy J. McDonald, Noel G. Morgan, Kathryn Murrall, Sarah J. Richardson, Megan E. Smithmyer, CATE SPEAKE, Timothy I. M. Tree, Bart O Roep
DOI: 10.2337/db25-0885
Cited by: 0
References: 1

Abstract

Autoimmune diabetes presenting in infancy or with additional autoimmune disorders can be the result of highly penetrant variants in key immune homeostasis genes. An example of this is observed with biallelic pathogenic variants in IL2RA (CD25), which causes immunodeficiency 41 (IMD41). IL2RA encodes the α-chain of the interleukin-2 receptor, which helps regulate the growth and activity of T cells. The diabetes phenotype in IMD41 has not been systematically described. We sequenced IL2RA in 290 individuals with diabetes diagnosed

Fields of Study & Subjects

Diabetes and associated disorders Immunodeficiency and Autoimmune Disorders T-cell and B-cell Immunology

Publication details

Journal / source
Diabetes
Volume
75
Issue
5
Pages
867–875
Publication date
27 February 2026
Language
EN