• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Immunologic Research: A Selective Reference to Current Research and Practice >The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation
【24h】

The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation

机译：特异性突变患者细胞因子8免疫缺陷综合征的临床与实验室谱

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Mutations in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency usually diagnosed as autosomal recessive hyper IgE syndrome. We sought to reveal the varying manifestations in patients with a unique mutation in DOCK8 gene by a retrospective medical record review. Ten patients from five consanguineous families and three tribes were included. Seven patients were homozygous for the c.C5134A, p.S1711X mutation, and the remaining three patients were their siblings manifesting hyper IgE syndrome features without a genetic diagnosis. Prior to the genetic diagnosis, the clinical diagnosis was "hyper IgE syndrome" in six patients and "anti-pneumococcal antibody deficiency," "recurrent pneumonia with bronchiectasis," and "asthma with hypereosinophilic syndrome" each diagnosed once. One additional patient was diagnosed due to family history. The age of presentation varied from 1 to 16 months. Eczema was diagnosed in all patients, food allergies in three, and severe herpes keratitis or malignancy or autoimmunity in two patients. Elevated IgE was recorded in nine patients; however, in six patients, the initial serum IgE concentration was equal to or less than three times the normal concentration for age, and in these patients, the median age at IgE evaluation was 7.5 months compared with 21.5 months in patients with an initial IgE concentration above three times the normal concentration for age (P = 0.067). The spectrum of disease manifestations in patients with a unique mutation in DOCK8 is variable. The genotype-phenotype correlations may be modified by genetic and/or epigenetic modifiers beyond the monogenic effect. Younger patients tend to have lower IgE concentrations at the initial measurement of IgE.
机译：细胞因子8（Dock8）基因的特定剂中的突变导致通常被诊断为常染色体隐性超IGE综合征的组合免疫缺陷。我们试图通过回顾性的医疗记录审查，揭示Dock8基因的独特突变患者的不同表现。包括来自五个近亲家族和三个部落的十名患者。 7名患者纯合的C.C5134A，P.S1711x突变，其余三名患者是他们的兄弟姐妹，表现出癌症诊断的超IGE综合征特征。在遗传诊断之前，临床诊断是六名患者中的“超IGE综合征”和“抗肺炎球菌抗体缺乏”，“经常性肺炎与支气管扩张，”哮喘患有过苯磺酸综合征“均诊断一次。由于家族史，诊断出一个额外的患者。介绍的年龄从1到16个月变化。湿疹被诊断出在所有患者中，食物过敏三次，两名患者的严重疱疹或严重的角膜炎或恶性肿瘤或自身免疫。升高的IgE被记录在九名患者中;然而，在六名患者中，初始血清IgE浓度等于或少于年龄的正常浓度的三倍，并且在这些患者中，IgE评价中位数为7.5个月，与初始IgE浓度的患者患者21.5个月相比以上正常浓度的3倍（p = 0.067）。 Dock8中独特突变患者的疾病表现谱是可变的。基因型 - 表型相关性可以通过超出单一效果的遗传和/或表观遗传改性剂来修饰。较年轻的患者在IgE的初始测量下倾向于具有下的IgE浓度。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号