GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes
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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DOI：
10.1016/j.clim.2007.04.013
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发表时间：
2007-08-01
影响因子：
8.6
通讯作者：
Gennery, Andrew R.
中科院分区：
文献类型：
--
作者：
Haq, Iram J.;Steinberg, Laura J.;Gennery, Andrew R.
对启动编码淋巴细胞受体的基因重排至关重要的β-内酰胺酶激活基因1/2（RAG 1/2）缺陷导致T-B-严重联合免疫缺陷（SCID）和Omenn综合征（OS），其特征在于红皮病、肝硬化、淋巴结病、活化的克隆性T细胞扩增（TCR β家族使用受限）和机会性感染。OS的许多特征类似于移植物抗宿主病（GvHD）。IFN γ T874 A、IFN γ-R1、TNF α d微卫星、IL-10启动子区C592 A和A1082 G、IL-4 C-590 T、IL-6 G-174 C、IL-4 R Q +576 R、IFN γ-R1 T-56 C、IL-6 G-174 C、IL-6 G-174 C、IL-4 R Q+576 R、IFN γ-R1 T-56 C、在33例OS和23例SCID患者中检测了TNF α RII 196 M/R单核苷酸多态性和IL-1 Ra内含子1 VNTR。两组间等位基因频率无显著差异，也未发现趋势。决定OS或T-B-NK+ SCID表型的机制仍有待确定。(c)2007年爱思唯尔公司All rights reserved.
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, hepatosptenomegaly, lymphadenopathy, activated, clonal T cell expansions with restricted TCR beta 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 IFN gamma T874A, IFN gamma-R1, TNF alpha d microsatellites, IL-10 promoter region C592A and A1082G, IL-4 C-590T, IL-6 G-174C, IL-4R Q+576R, IFN gamma-R1 T-56C, TNF alpha RII 196 M/R single-nucleotide polymorphisms and IL-1 Ra 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. (c) 2007 Elsevier Inc. All rights reserved.