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首页> 外文期刊>Clinical immunology: The official journal of the Clinical Immunology Society >GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.
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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.

机译：RAG基因缺陷患者中，与GvHD相关的细胞因子多态性与Omenn综合征无关，而不与T-B-SCID相关。

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摘要

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 TCRVbeta 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 IFNgamma T874A, IFNgamma-R1, TNFalphad microsatellites, IL-10 promoter region C592A and A1082G, IL-4 C-590T, IL-6 G-174C, IL-4R Q+576R, IFNgamma-R1 T-56C, TNFalphaRII 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 determiningthe OS or T-B-NK+ SCID phenotype remain to be determined.
机译：重组酶激活基因1/2（RAG1 / 2）缺失对于启动编码淋巴细胞受体的基因重排至关重要，可导致TB重症联合免疫缺陷症（SCID）和Omenn综合征（OS），其特征是红皮病，肝脾肿大，淋巴结病，活化，克隆性T TCRVbeta家族使用受限和机会感染导致细胞扩增。 OS的许多特征类似于移植物抗宿主病（GvHD）。研究了与OS相关的GvHD相关细胞因子基因多态性（CGP）的频率，以解释T-B-SCID与OS之间的表型差异。 IFNgamma T874A，IFNgamma-R1，TNFalphad微卫星，IL-10启动子区域C592A和A1082G，IL-4 C-590T，IL-6 G-174C，IL-4R Q + 576R，IFNgamma-R1 T-56C，在33例OS和23例SCID患者中检查了TNFalphaRII 196 M / R单核苷酸多态性和IL-1Ra内含子1 VNTR。两组之间没有发现等位基因频率的显着差异，也未发现趋势。确定OS或T-B-NK + SCID表型的机制仍有待确定。

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