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GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes

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.

Publication metadata

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


DOI: 10.1016/j.clim.2007.04.013


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