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

Iram J. Haq, Laura J. Steinberg, Manfred Hoenig, Mirjam van der Burg, Anna Villa, Andrew J. Cant, Peter G. Middleton, Andrew R. Gennery

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)165-169
Number of pages5
JournalClinical Immunology
Volume124
Issue number2
DOIs
Publication statusPublished - Aug 2007

Keywords

  • GvHD-associated cytokine gene polymorphisms
  • Omenn syndrome
  • RAG-deficient severe combined immunodeficiency

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

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