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Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 1 Aug 2011

Zhang Zhi-Yong, Zhao Xiao-Dong, Jiang Li-Ping, Liu En-Mei, Cui Yu-Xia, Wang Mo, Wei Hong, Yu Jie, An Yun-Fei, Yang Xi-Qiang

Abstract excerpt

Omenn syndrome (OS) is a rare autosomal recessive genetic disorder and presents symptoms of severe combined immunodeficiency characterized by erythrodermia, eosinophilia, hepatosplenomegaly, lymphadenopathy, and elevated serum IgE levels. OS has been found to be caused by mutations in RAG1 or RAG2 gene that result in partial V(D)J recombination activity. No study on OS has been reported in Chinese children so...

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Source

Identifiers

PMID: 21771083
DOI: 10.1111/j.1399-3038.2010.01126.x

Genes

RAG1
RAG2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.PMID 21771083Read ↗

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Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency.Semantic proximity Read ↗

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Omenn syndrome does not live by V(D)J recombination alone.Semantic proximity Read ↗

Omenn syndrome: a disorder of Rag1 and Rag2 genes.Semantic proximity Read ↗

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