中国实用儿科杂志

中国实用儿科杂志 ›› 2023, Vol. 38 ›› Issue (5): 395-400.DOI: 10.19538/j.ek2023050616

• 病例报告 • 上一篇    

X-连锁无丙种球蛋白血症合并寻常型鱼鳞病患儿的临床及免疫学特征分析

  

  1. 1.国家儿童健康与疾病临床医学研究中心  儿童发育重大疾病国家国际科技合作基地  儿童发育疾病研究教育部重点实验室  儿童感染免疫重庆市重点实验室  重庆医科大学附属儿童医院 a. 风湿免疫科，b. 临床病理诊断中心，重庆  400014
  • 出版日期:2023-05-06 发布日期:2023-06-14
  • 通讯作者: 毛华伟，电子信箱：maohwei@qq.com
  • 基金资助:
    重庆英才青年拔尖人才项目（CQYC201905003）；重庆市中青年医学高端人才项目（2019181）

Clinical and immunological features of X-linked agammaglobulinemia complicated with ichthyosis vulgaris in children

  1. National Clinical Research Center for Child Health and Disorders；China International Science and Technology Cooperation Base of Child Development and Critical Disorders；Ministry of Education Key Laboratory of Child Development and Disorders；Chongqing Key Laboratory of Child Infection and Immunity；Department of Rheumatology and Immunology，Children’s Hospital of Chongqing Medical University，Chongqing  400014，China
  • Online:2023-05-06 Published:2023-06-14

摘要： X-连锁无丙种球蛋白血症（X-linked agammaglobulinaemia，XLA）是BTK基因突变导致的原发性免疫缺陷病，寻常型鱼鳞病（ichthyosis vulgaris，IV）是丝聚蛋白（filaggrin，FLG）基因突变导致的不完全外显单基因遗传病，目前尚无共同发病的报道。该文首次报道2017年5月重庆医科大学附属儿童医院风湿免疫科收治1例XLA合并寻常型鱼鳞病患儿。由于临床表型不典型，XLA诊断延迟。临床实践中，临床医生需注意XLA表型谱变异，对不典型表型需高度警惕。免疫学检查和基因测序有助于疾病诊断，同时全外显子基因检测对不典型遗传疾病的确诊具有重要临床意义。

关键词: X-连锁无丙种球蛋白血症, 寻常型鱼鳞病, 胃肠道疾病, 全外显子测序

Abstract: X-linked agammaglobulinaemia （XLA） is a primary immunodeficiency disease caused by mutations in the BTK gene. Ichthyosis vulgaris （IV） is an inherited skin disorder with mutations in filaggrin （FLG） gene with incomplete penetrance. There have been no reports on comorbidity of XLA and IV at present. This is the first report on XLA complicated with IV，which was found in the Children's Hospital Affiliated to Chongqing Medical university in May of 2017. The diagnosis of XLA was delayed due to the atypical clinical phenotype. In clinical practice，physicians should pay attention to the variation of XLA phenotype spectrum，and be alert to atypical phenotypes. Immunological examinations and gene sequencing are helpful for disease diaghosis. WES has great significance for the diagnosis of atypical genetic diseases.

Key words: X-linked agammaglobulinaemia, ichthyosis vulgaris, gastrointestinal disease, whole exome sequencing