Mutation analysis of interleukin-36RN gene in a child with erythroderma
10.3760/cma.j.issn.0412-4030.2018.12.011
- VernacularTitle:一例红皮病患儿白细胞介素36RN突变分析
- Author:
Ying XIE
1
;
Suyun CHENG
;
Huasong ZENG
Author Information
1. 551000,广州医科大学附属广州市妇女儿童医疗中心风湿免疫科
- Keywords:
Dermatitis,exfoliative;
Psoriasis;
Interleukin-1;
DNA mutational analysis;
Interleukin-36 receptor antagonist
- From:
Chinese Journal of Dermatology
2018;51(12):899-901
- CountryChina
- Language:Chinese
-
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.
