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Clinical and genetic landscape of SCID in Yunnan, China: identification of two novel RAG2 variants.

Scientific reports - 28 May 2026

Wang Yanjun, Jin Ruohong, Han Qian, Hang Ling, Lv Ling, Chen Guizhi, Hu Rong, Xiao Shufang

Abstract excerpt

Severe combined immune deficiency (SCID) is a rare inherited defect of lymphocytes causing life-threatening opportunistic infections in early infancy. Data on SCID from China are limited. This study explores the clinical, immunologic, and genetic features of a SCID cohort from Yunnan Province in China and reports novel variants. We collated clinical, laboratory, and molecular details from patients with a clinical...

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Source

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Identifiers

PMID: 42209588
DOI: 10.1038/s41598-026-54172-1
PMCID: PMC13447960

Genes

RAG2
IL2RG
CD3D
DCLRE1C
LIG4

Variants

Provenance

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