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Article

Omenn syndrome: a disorder of Rag1 and Rag2 genes.

Journal of clinical immunology - 1 Mar 1999

Villa A, Santagata S, Bozzi F, Imberti L, Notarangelo L D

Abstract excerpt

In vertebrates, generation of the T- and B-cell repertoire relies on genomic rearrangement of T-cell receptor and immunoglobulin gene coding segments. This process, known as V(D)J recombination, is initiated by the lymphoid specific proteins Rag1 and Rag2. Both in humans and in animal models, mutations that abrogate expression of either the Rag1 or Rag2 proteins result in severe combined immune deficiency with a...

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Identifiers

PMID: 10226883
DOI: 10.1023/a:1020550432126

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Omenn syndrome: a disorder of Rag1 and Rag2 genes.PMID 10226883Read ↗

Omenn Syndrome and DNA recombination defects.Semantic proximity Read ↗

RAG and RAG defects.Semantic proximity Read ↗

RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches.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 does not live by V(D)J recombination alone.Semantic proximity Read ↗

Partial V(D)J recombination activity leads to Omenn syndrome.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 ↗

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 ↗

The genetic and biochemical basis of Omenn syndrome.Semantic proximity Read ↗

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

RAG Deficiency: Two Genes, Many Diseases.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 ↗

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