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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.
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
URL: http://dx.doi.org/10.1016/j.clim.2005.04.014
DOI: 10.1016/j.clim.2005.04.014
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