[A compound heterozygosity mutation in the interleukin-7 receptor-alpha gene resulted in severe combined immunodeficiency in a Chinese patient].

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[A compound heterozygosity mutation in the interleukin-7 receptor-alpha gene resulted in severe combined immunodeficiency in a Chinese patient].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Sept 2009

Zhang Zhi-yong, Zhao Xiao-dong, Wang Mo, Yu Jie, An Yun-fei, Yang Xi-qiang

Abstract excerpt

OBJECTIVE: Mutation in the interleukin-7 receptor-alpha (IL-7R alpha) chain causes a rare type of severe combined immunodeficiency (SCID) with presence of NK cells in the peripheral blood. Here we report the molecular and clinical characterization of a compound heterozygosity mutation in the interleukin-7 receptor-alpha gene that resulted in SCID in a patient firstly from China. METHOD: A 5 month-old male patient...

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DNA
RAG2 gene
Genome, Human
Heterozygote
Infant
Mutation
Receptors, Interleukin-7

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Severe Combined Immunodeficiency

Source

Open in PubMed

Identifiers

PMID: 20021794

Genes

RAG1
RAG2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.