Abstract: Xie Ying, Cheng Suyun, Zeng Huasong Department of Pediatric Allergy, Immunology and Rheumatology, Guangzhou Women and Children′s Medical Center, Guangzhou Medical University, Guangzhou 551000, China Corresponding author: Zeng Huasong, Email: huasongxuqing@163.com 【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.

Key words: Dermatitis, exfoliative, Psoriasis, Interleukin?1, DNA mutational analysis, Interleukin?36 receptor antagonist