Biallelic Pathogenic Variants in <i>IL2RA</i> Cause Neonatal-Onset Monogenic Autoimmune Diabetes
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. IL2RA should be included in genetic testing for neonatal diabetes and considered in children with diabetes plus immune dysregulation.
Authors
- CATE SPEAKE
- Kathryn Murrall (ORCID: https://orcid.org/0009-0009-3370-6767)
- Georgia Bonfield
- Andrew Tym Hattersley (ORCID: https://orcid.org/0000-0001-5620-473X)
- Suraj Ramchand (ORCID: https://orcid.org/0000-0002-3195-1111)
- Amber M Luckett (ORCID: https://orcid.org/0000-0001-9496-3796)
- 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
- Bart O. Roep.
- Matthew N. Wakeling
- Timothy I.M. Tree
Institutions
- Gulf Medical University (AE)
- University of Exeter (GB)
- Sir H.N. Reliance Foundation Hospital and Research Centre (IN)
- Da Nang Hospital (VN)
- Shaikh Khalifa Medical City (AE)
- Anveshi Research Centre for Women's Studies (IN)
- Sheikh Shakhbout Medical City (AE)
- Kanchi Kamakoti CHILDS Trust Hospital (IN)
- SRCC Children’s Hospital (IN)
Publication Details
- Journal
- Diabetes
- Published
- 2026-02-27
- DOI
- https://doi.org/10.2337/db25-0885
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Leona M. and Harry B. Helmsley Charitable Trust
- National Institute for Health and Care Research
- Department of Health and Social Care
- Diabetes UK
- European Foundation for the Study of Diabetes
- Novo Nordisk
- Novo Nordisk Fonden
- NIHR Exeter Clinical Research Facility