Case Report: X-Linked SCID Due to IL2RG p.V223F Variant

A 135.5 KB PDF case report authored by Bricia Melissa Gutiérrez-Zepeda and published on figshare under CC-BY-4.0 license. It describes two male siblings with X-linked severe combined immunodeficiency (X-SCID), detailing their clinical presentation, immunological findings, and molecular analysis of the IL2RG p.V223F variant. The report was last updated on April 14, 2026.

Use Cases

• Supporting variant classification based on detailed clinical evidence and in silico analyses described in the report
• Studying the phenotypic spectrum of SCID based on the documented T−B+NK− immunophenotype and clinical complications
• Informing genetic counseling practices for consanguineous families based on the described family history
• Highlighting diagnostic clues for SCID, such as the absence of a thymic shadow and severe post-BCG vaccination reactions mentioned in the discussion

Strengths

• Report provides detailed clinical and molecular evidence for a specific genetic variant (IL2RG p.V223F)
• Includes specific patient ages, immunological phenotypes, and clinical outcomes for two cases
• Published under a permissive CC-BY-4.0 license allowing reuse

Limitations

• Row count is unknown, which may limit suitability assessment
• Column-level documentation is absent; field semantics must be inferred after download
• The 135.5 KB size indicates a single, focused case report with limited scope

Provenance

Source

figshare

Collection Method

Likely contains a single authored medical case report.

Time Range

Clinical timeline described spans from patient birth to death at 8-12 months of age.

Freshness

Last updated 2026-04-14 05:36:13; freshness should be verified

Geography

Geographic origin of the patients is not specified in the provided description.