부산대학교 도서관

Dear Editor, Deficiency of interleukin-36 receptor antagonist (DITRA) syndrome is an autoinflammatory disease caused by loss of function mutations in the interleukin-36 receptor. We report the case of a boy suffering from DITRA syndrome and a novel mutation in the I IL36RN i gene. DITRA syndrome is a life-threatening autoinflammatory disease first described by Marrakchi et al.1 Homozygous or compound heterozygous loss-of-function mutations responsible for DITRA may be inherited or arise de novo, and both missense and nonsense pathogenic variants have been reported.2 The c.227C > T (p. Pro76Leu) variant has already been described as pathogenic. [Extracted from the article]