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

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