Familial Mediterranean fever gene as a possible modifier of sweet syndrome with chronic myelogenous leukemia
Familial Mediterranean fever gene as a possible modifier of sweet syndrome with chronic myelogenous leukemia
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DOI：
10.1159/000158578
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发表时间：
2008-01-01
影响因子：
2.4
通讯作者：
Uchiyama, Takashi
中科院分区：
文献类型：
--
作者：
Miyoshi, Takashi;Yamashita, Kouhei;Uchiyama, Takashi
Sweet综合征是一种多系统炎症性疾病，其特征是急性发热，以及在没有血管炎的情况下浸润成熟中性粒细胞的疼痛红斑斑块。该疾病的发病机制尚未明确，尽管有报道称几种促炎细胞因子参与了该疾病的发病过程。我们在这里描述一个临床诊断为慢性粒细胞白血病的Sweet综合征的病人。突变分析显示MEFV基因2外显子存在E148Q/R202Q复合杂合突变，该基因是家族性地中海热的致病基因。这是关于Sweet综合征MEFV基因突变的第一篇报道。我们的研究结果表明，Sweet综合征可能通过与家族性地中海热相似的炎症机制介导。版权所有2008 S. Karger AG，巴塞尔
Sweet syndrome is a multisystem inflammatory disorder characterized by acute fever, as well as painful erythematous plaques infiltrated with mature neutrophils in the absence of vasculitis. The pathogenesis of the disease has not yet been clarified, although several proinflammatory cytokines have been reported to be involved in the disease process. We describe here a patient clinically diagnosed with Sweet syndrome with chronic myelogenous leukemia. The mutational analysis of the patient revealed a compound heterozygous E148Q/R202Q mutation in exon 2 of MEFV gene, which is a causative gene for familial Mediterranean fever. This is the first report to describe MEFV gene mutations in Sweet syndrome. Our results suggest that Sweet syndrome may be mediated though similar inflammatory mechanisms to those of familial Mediterranean fever. Copyright (C) 2008 S. Karger AG, Basel.