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Article

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.

Blood - 1 May 2001

Corneo B, Moshous D, Güngör T, Wulffraat N, Philippet P, Le Deist F L, Fischer A, de Villartay J P

Abstract excerpt

Omenn syndrome (OS) is an inherited disorder characterized by an absence of circulating B cells and an infiltration of the skin and the intestine by activated oligoclonal T lymphocytes, indicating that a profound defect in the lymphoid developmental program could be accountable for this condition. Inherited mutations in either the recombination activating genes RAG1 or RAG2, resulting in partial V(D)J recombinase...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11313270
DOI: 10.1182/blood.v97.9.2772

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

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Research trail→

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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.PMID 11313270Read ↗

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

Omenn Syndrome and DNA recombination defects.Semantic proximity Read ↗

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

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

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

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.Semantic proximity Read ↗

Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency.Semantic proximity Read ↗

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

RAG and RAG defects.Semantic proximity Read ↗

Omenn syndrome in the context of other B cell-negative severe combined immunodeficiencies.Semantic proximity Read ↗

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