Zhu Ying, Li Li, Mao Guoshun, Zhang Lei, Wang Jing, Li Nannan
Department of Pediatrics, Fuyang City People's Hospital, Fuyang 236000, China.
Transl Pediatr. 2020 Apr;9(2):117-125. doi: 10.21037/tp.2020.03.07.
Primary immune deficiency diseases (PID) are a group of potentially serious disorders in which inherited defects in the immune system lead to increased infections. This paper explores the clinical characteristics and pathogenic gene mutation of PID.
The clinical data, clinical manifestations, and gene sequencing results of seven children were analyzed.
Among the seven children, six were male, and one was female, aged from 4 months to 13 years old. All of them had a history of repeated infection and pneumonia. High throughput sequencing (NGS) showed that the BTK gene of case 1 had c.1921c > t mutation; the BTK gene of case 2 had c.906-908del splice site mutation; the BTK gene of case 3 had c.718delg mutation; the cybb gene of case 4 had c.469c > t mutation; the IL2RG gene of case 5 had c.202g > A mutation; the STAT1 gene of case 6 had c.854a > G mutation; the case 7 had c.718delg mutation. There was c.1154c > t mutation in the STAT1 gene. Cases 1, 3, 6 and 7 were new mutations, and cases 2, 4, and 5 were inherited from mothers.
In clinical cases of children with recurrent infection, the immunologic index is abnormal, so we need to be highly aware of the possibility of PID, and timely high-throughput sequencing is helpful for the diagnosis.
原发性免疫缺陷病（PID）是一组潜在的严重疾病，免疫系统的遗传缺陷会导致感染增加。本文探讨了PID的临床特征和致病基因突变。
分析了7名儿童的临床资料、临床表现及基因测序结果。
7名儿童中，男性6名，女性1名，年龄4个月至13岁。均有反复感染及肺炎病史。高通量测序（NGS）显示，病例1的BTK基因有c.1921c＞t突变；病例2的BTK基因有c.906 - 908del剪接位点突变；病例3的BTK基因有c.718delg突变；病例4的cybb基因有c.469c＞t突变；病例5的IL2RG基因有c.202g＞A突变；病例6的STAT1基因有c.854a＞G突变；病例7有c.718delg突变。STAT1基因有c.1154c＞t突变。病例1、3、6和7为新突变，病例2、4和5为母亲遗传。
在反复感染儿童的临床病例中，免疫指标异常，因此我们需要高度警惕PID的可能性，及时进行高通量测序有助于诊断。
