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Article

Omenn Syndrome and DNA recombination defects.

Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology - 1 Jan 2017

Yachie Akihiro

Abstract excerpt

Mutations in the RAG1/RAG2 genes are associated with a broad spectrum of clinical phenotypes, ranging from severe combined immunodeficiency to various autoimmune diseases. The diversity of the clinical symptoms is determined not only by the residual RAG recombinase enzyme activity as determined by the mutations, but also by multiple environmental factors and, in rare cases, by second site mutations within the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28747605
DOI: 10.2177/jsci.40.179

Genes

RAG1
RAG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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Omenn Syndrome and DNA recombination defects.PMID 28747605Read ↗

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

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

More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.Semantic proximity Read ↗

Analysis of mutations and recombination activity in RAG-deficient patients.Semantic proximity Read ↗

RAG and RAG 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 ↗

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

Clinical Manifestations and Immunologic Phenotype in Patients With RAG1/2 Mutations: A Single Centre Experience and Description of A Novel Mutation.Semantic proximity Read ↗

Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes.Semantic proximity Read ↗

Three faces of recombination activating gene 1 (RAG1) mutations.Semantic proximity Read ↗

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 ↗

RAG Deficiency: Two Genes, Many Diseases.Semantic proximity Read ↗

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