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Article

Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.

Allergology international : official journal of the Japanese Society of Allergology - 1 Jun 2006

Kato Masahiko, Kimura Hirokazu, Seki Mitsuru, Shimada Akira, Hayashi Yasuhide, Morio Tomohiro, Kumaki Satoru, Ishida Yasushi, Kamachi Yoshiro, Yachie Akihiro

Abstract excerpt

Omenn syndrome (OS) is a form of severe combined immunodeficiency (SCID) characterized by erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. In patients with OS, B cells are mostly absent, T-cell counts are normal to elevated, and T cells are frequently activated and express a rest...

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Source

Identifiers

PMID: 17075247
DOI: 10.2332/allergolint.55.115

Genes

RAG1
RAG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17075247-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.PMID 17075247Read ↗

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Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome.Semantic proximity Read ↗

Atypical Omenn Syndrome Due to RAG2 Gene Mutation, a Case Report.Semantic proximity Read ↗

Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.Semantic proximity Read ↗

Omenn Syndrome and DNA recombination defects.Semantic proximity Read ↗

Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.Semantic proximity Read ↗

[Clinical phenotype and gene diagnostic analysis of Omenn syndrome].Semantic proximity Read ↗

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 ↗

Omenn syndrome caused by a novel homozygous mutation in recombination activating gene 1.Semantic proximity Read ↗

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