一例红皮病患儿白细胞介素36RN突变分析

Mutation analysis of interleukin-36RN gene in a child with erythroderma

患儿男,2岁,出生2个月后全身反复出现弥漫性脱屑性红色斑疹,无脓疱、溃烂,伴有反复发热,热峰39.3℃,诊断为红皮病。全基因组测序分析显示,该患儿白细胞介素36RN发生c.28C>T和c.368C>T复合杂合突变,其中,c.28C>T遗传自其父亲,引起p.Arg10X改变,导致氨基酸转录终止提前出现;c.368C>T遗传自其母亲,引起p.Thr123Met改变。患儿白细胞介素1RN基因未发生突变。白细胞介素36RN c.28C>T和c.368C>T复合杂合突变可能是该例患儿发生红皮病的原因。

A 2-year-old male child presented with recurrent diffuse desquamative red macules all over the body,without pustules or ulcers.The patient had repeated fever,which peaked at 39.3 ℃.The patient was diagnosed with erythroderma.Whole genome sequencing showed 2 compound heterozygous mutations (c.28C>T and c.368C>T) in the interleukin (IL)-36RN gene.The mutation c.28C>T was inherited from his father,leading to p.Arg10X and premature termination of amino acid transcription.The mutation c.368C>T was inherited from his mother,causing p.Thr123 Met.No mutation was found in the IL-1RN gene in the patient.The compound heterozygous mutations c.28C>T and c.368C>T may be responsible for erythroderma in this child.