کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3258099 1207437 2007 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T−B− SCID in patients with defects in RAG genes
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری ایمنی شناسی و میکروب شناسی ایمونولوژی
پیش نمایش صفحه اول مقاله
GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T−B− SCID in patients with defects in RAG genes
چکیده انگلیسی

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinical Immunology - Volume 124, Issue 2, August 2007, Pages 165–169
نویسندگان
, , , , , , , ,