A novel hypomorphic mutation in <i>IL2RG</i> associated with severe interstitial lung disease.

ABSTRACT: In individuals with hypomorphic mutations of IL2RG, inflammatory or autoimmune disorders are rare. We present a child with prolonged and severe interstitial lung disease, Omenn-like syndrome, and a novel frameshift variant in IL2RG.

SUBMITTER: Liu H 

PROVIDER: S-EPMC12396425 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature