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Article

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

Blood - 15 Sept 2005

Wada Taizo, Toma Tomoko, Okamoto Hiroyuki, Kasahara Yoshihito, Koizumi Shoichi, Agematsu Kazunaga, Kimura Hirokazu, Shimada Akira, Hayashi Yasuhide, Kato Masahiko, Yachie Akihiro

Abstract excerpt

Omenn syndrome (OS) is a rare primary immunodeficiency characterized by the presence of activated/oligoclonal T cells, eosinophilia, and the absence of circulating B cells. OS patients carry leaky mutations of recombination activating genes (RAG1 or RAG2) resulting in partial V(D)J recombination...

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Source

Identifiers

PMID: 15845893
DOI: 10.1182/blood-2005-03-0936

Genes

RAG1
RAG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15845893-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency.PMID 15845893Read ↗

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Omenn Syndrome and DNA recombination defects.Semantic proximity Read ↗

Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.Semantic proximity Read ↗

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

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

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