Mutation analysis of interleukin-36RN gene in a child with erythroderma / 中华皮肤科杂志

ABSTRACT

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.