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Article

Omenn's syndrome occurring in patients without mutations in recombination activating genes.

Clinical immunology (Orlando, Fla.) - 1 Sept 2005

Gennery Andrew R, Hodges Elizabeth, Williams Anthony P, Harris Susan, Villa Anna, Angus Brian, Cant Andrew J, Smith John L

Abstract excerpt

Omenn syndrome (OS) is characterised by hepatosplenomegaly, lymphadenopathy, erythema, eosinophilia, elevated IgE, oligoclonal T cell expansions and recombinase activating gene (RAG) mutations. We investigated 9 cases of OS to correlate genotype with immunophenotype using a two-color flow cytometry with monoclonal antibodies against CD3 and TCRVB families to map TCRVB usage. T and B clonal cell populations were...

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Source

Identifiers

PMID: 15964782
DOI: 10.1016/j.clim.2005.04.014

Genes

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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.

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