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Lookup NU author(s): Dr Iram Haq, Professor Andrew Cant, Dr Peter Middleton, Professor Andrew GenneryORCiD
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Recombinase activating genes 1/2 (RAG1/2) deficiency, critical to initiate gene rearrangement encoding lymphocyte receptors, causes T-B- severe combined immunodeficiency (SCID) and Omenn syndrome (OS), characterised by erythroderma, hepatosplenomegaly, lymphadenopathy, activated, clonal T cell expansions with restricted TCRVβ family usage, and opportunistic infection. Many features of OS resemble graft-versus-host disease (GvHD). Frequency of GvHD-associated cytokine gene polymorphisms (CGPs) with OS was investigated to explain phenotypic differences between T-B- SCID and OS. Allele frequencies of IFNγ T874A, IFNγ-R1, TNFαd microsatellites, IL-10 promoter region C592A and A1082G, IL-4 C-590T, IL-6 G-174C, IL-4R Q+576R, IFNγ-R1 T-56C, TNFαRII 196 M/R single-nucleotide polymorphisms and IL-1Ra intron 1 VNTR were examined in 33 OS and 23 SCID patients. No significant differences in allele frequencies were found between the groups, and no trends identified. The mechanisms determining the OS or T-B-NK+ SCID phenotype remain to be determined. © 2007 Elsevier Inc. All rights reserved.
Author(s): Haq IJ, Steinberg LJ, Hoenig M, van der Burg M, Villa A, Cant AJ, Middleton PG, Gennery AR
Publication type: Article
Publication status: Published
Journal: Clinical Immunology
Year: 2007
Volume: 124
Issue: 2
Pages: 165-169
Print publication date: 01/08/2007
ISSN (print): 1521-6616
ISSN (electronic): 1521-7035
Publisher: Academic Press
URL: http://dx.doi.org/10.1016/j.clim.2007.04.013
DOI: 10.1016/j.clim.2007.04.013
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