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Article

Omenn syndrome due to ARTEMIS mutations.

Blood - 1 Jun 2005

Ege Markus, Ma Yunmei, Manfras Burkhard, Kalwak Krzysztof, Lu Haihui, Lieber Michael R, Schwarz Klaus, Pannicke Ulrich

Abstract excerpt

Omenn syndrome (OS) is characterized by severe combined immunodeficiency (SCID) associated with 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 restricted T-cell receptor (TCR) repertoire. Thus far, inherited hypomorphic mutations of the recombination...

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Source

Identifiers

PMID: 15731174
DOI: 10.1182/blood-2004-12-4861

Genes

RAG1

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.

Research trail→

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Omenn syndrome due to ARTEMIS mutations.PMID 15731174Read ↗

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The V(D)J recombination/DNA repair factor artemis belongs to the metallo-beta-lactamase family and constitutes a critical developmental checkpoint of the lymphoid system.Semantic proximity Read ↗

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

A hypomorphic Artemis human disease allele causes aberrant chromosomal rearrangements and tumorigenesis.Semantic proximity Read ↗

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

Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis.Semantic proximity Read ↗

Omenn's syndrome occurring in patients without mutations in recombination activating genes.Semantic proximity Read ↗

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.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 ↗

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

Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.Semantic proximity Read ↗

Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow.Semantic proximity Read ↗

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