X-linked severe combined immunodeficiency (IL2RG-related)

X-SCID / IL2RG-related SCID / T- B+ NK- severe combined immunodeficiency

8.6
Overall
Confidence: 78%
Composite of urgency, severity, and feasibility — higher score indicates greater research priority

IL2RG-related X-SCID accounts for ~40–50% of SCID cases and presents in early infancy with severe, often fatal infections without curative therapy (WEB-02, BIOMNI-01). Classical SCID birth prevalence in developed settings is around 1/40,000–1/60,000 live births (WEB-05).

Last updated: March 26, 2026

Data sources: ClinVar 2026-03 · gnomAD v4.1 · ClinicalTrials.gov API v2