Article
Biallelic Pathogenic Variants in IL2RA Cause Neonatal-Onset Monogenic Autoimmune Diabetes.
Diabetes - 1 May 2026
Bonfield Georgia, Russ-Silsby James, Ramchand Suraj, Luckett Amber M, Wakeling Matthew N, Kulkarni Abhishek, Nagesh V Sri, Deeb Asma, Ravikumar K G, Nguyen Phuong T K, Hattersley Andrew T, Oram Richard A, Flanagan Sarah E, De Franco Elisa, Johnson Matthew B
Abstract excerpt
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...
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