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首页> 外文期刊>Pediatric diabetes. >A case of WHIM syndrome associated with diabetes and hypothyroidism.
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A case of WHIM syndrome associated with diabetes and hypothyroidism.

机译：一例与糖尿病和甲状腺功能减退有关的WHIM综合征。

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The WHIM syndrome is a rare immunological disorder characterized by warts, hypogammaglobulinemia, infections, and myelokathexis. We hypothesized that immunological or genetic mechanisms may link WHIM syndrome and type 1 diabetes. We report that the young girl with WHIM syndrome developed diabetes and transient hypothyroidism. A nonsense mutation (C-->T) truncating the CXC chemokine receptor 4 (CXCR4) C-terminal cytoplasmic tail domain occurred at nucleotide position 1000(R334X) of the CXCR4 gene in one allele of the patient was identified, and the person was diagnosed as having WHIM syndrome. Recent observation suggested that the CXCR4, a G-protein-coupled receptor with a unique ligand, CXCL12, might be involved in the pathogenesis for type 1 diabetes. Taken into consideration the concurrent prevalence of the two disorders and the speculated common pathogenesis associated with the CXCR4, our patient may enable us to understand the genetic damage related to accelerated apoptosis.
机译：WHIM综合征是一种罕见的免疫性疾病，其特征在于疣，低聚球蛋白血症，感染和骨髓软化症。我们假设免疫或遗传机制可能将WHIM综合征和1型糖尿病联系起来。我们报告说，WHIM综合征的年轻女孩发展为糖尿病和短暂性甲状腺功能减退症。在该患者的一个等位基因中，CXCR4基因的核苷酸位置1000（R334X）处发生了无意义的突变（C→T），该突变截断了CXC趋化因子受体4（CXCR4）C端细胞质尾部结构域，被诊断患有WHIM综合征。最近的观察表明，CXCR4是一种G蛋白偶联受体，具有独特的配体CXCL12，可能与1型糖尿病的发病机理有关。考虑到两种疾病的同时流行以及与CXCR4相关的常见发病机制，我们的患者可能使我们能够了解与加速凋亡相关的遗传损伤。

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