X-linked severe combined immunodeficiency (IL2RG-related SCID-X1)
SCID-X1 / X-linked SCID / IL2RG-related severe combined immunodeficiency
8.5
Overall
Confidence: 72%
Composite of urgency, severity, and feasibility — higher score indicates greater research priority
Rare primary immunodeficiency (SCID subtype) with estimated birth prevalence on the order of 1 in 50,000–100,000 births; represents one of the most common genetically defined SCID forms detected by TREC-based newborn screening.
Last updated: March 26, 2026
Data sources: ClinVar 2026-03 · gnomAD v4.1 · ClinicalTrials.gov API v2 · MONDO:MONDO:0008380