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

Lookup NU author(s): Professor Andrew GenneryORCiD, Dr Simon Harris, Dr Brian Angus, Professor Andrew Cant


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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 examined in peripheral blood lymphocytes by PCR and sequencing of TCRB/TCRG T cell and IGH FR2/FR3 B cell products. RAG and Artemis genes were sequenced from genomic DNA. All patients demonstrated absent TCRVB families; six had predominant TCRVB families, six oligoclonal TCR gene rearrangements including TCRGD rearrangements. One demonstrated functional IGH rearrangement, an observation not previously reported. In this clinically homogeneous population, with similar immunological phenotype, RAG mutations were identified in only 2/9 patients. OS is a genetically heterogeneous condition, and patients with similar immunophenotypes may have as yet unidentified gene defects. (c) 2005 Elsevier Inc. All rights reserved.

Publication metadata

Author(s): Gennery AR, Hodges E, Williams AP, Harris S, Villa A, Angus B, Cant AJ, Smith JL

Publication type: Article

Publication status: Published

Journal: Clinical Immunology

Year: 2005

Volume: 116

Issue: 3

Pages: 246-256

ISSN (print): 1521-6616

ISSN (electronic): 1521-7035

Publisher: Academic Press


DOI: 10.1016/j.clim.2005.04.014


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