DITRA是白细胞介素36受体拮抗剂（IL36RN）缺陷的缩写，导致无法抵消促炎信号，通常表现为脓疱性银屑病。在亚洲患者中，c.115+6T>C基因突变是DITRA中最常见和最重要的单核苷酸变异。我们展示了最大的案例系列，包括58例携带杂合或纯合c.115+6T>C突变的DITRA患者。发病平均年龄（±SD）为20.74（±20.86），发病中位年龄为13岁。12名患者（20.7％）在2岁前就发病了。22名患者（37.9％）在2到18岁之间发病。主要临床表现是广泛性脓疱性银屑病（GPP）伴有全身症状（33名患者，56.9％），其次是Hallopeau氏毛周角皮肤炎（16名患者，27.6％）。近一半的患者（27名，46.6％）曾经患有Hallopeau氏毛周角皮肤炎，只有3名患者目前没有Hallopeau氏毛周角皮肤炎的表现，这表明Hallopeau氏毛周角皮肤炎的发展相对持久和不可逆转。34名患者（58.6％）患有反复发作的GPP，29名患者（50％）因GPP加重而入院治疗。与携带杂合（C/T）突变的患者相比，携带纯合突变（C/C）的患者更容易出现反复发作的GPP（C/T vs C/C：25.53 vs 76.47％，p=0.0367）。有两名患者因脓疱性银屑病皮肤损伤引起鳞状细胞癌。两名患者IgG4水平升高。本文受版权保护。保留所有权利。

DITRA, acronym for deficiency of interleukin-36 receptor antagonist (IL36RN), leads to unopposed proinflammatory signaling which typically manifests as pustular psoriasis. In Asian patients, c.115+6T>C mutation is the most common and important single-nucleotide variant in DITRA. We present the largest case series consisting of 58 DITRA patients carrying heterozygous or homozygous c.115+6T>C mutation. The mean age of onset (±SD) was 20.74 (±20.86) and median age of onset was 13 years old. Twelve patients (20.7%) had disease onset before the age of 2. Twenty-two patients (37.9%) had disease onset between the ages of 2 to 18. Main clinical phenotype was generalized pustular psoriasis (GPP) with systemic symptoms (33 patients, 56.9%), followed by acrodermatitis continua of Hallopeau (ACH) (16 patients, 27.6%). Nearly half of our patients (27 patients, 46.6%) ever had ACH, and only 3 of them are free of ACH currently, which indicates that the development of ACH is relatively persistent and irreversible. Thirty-four patients (58.6%) had recurrent GPP and 29 patients (50%) have been admitted due to GPP flare. Compared to those with heterozygous (C/T) mutation, more patients carrying homozygous mutation (C/C) have recurrent episodes of GPP (C/T vs C/C: 25.53 vs 76.47 %, p=0.0367). Two patients with squamous cell carcinomas arising from the pustular psoriasis skin lesions were noted. Two patients had elevated serum IgG4 levels.This article is protected by copyright. All rights reserved.