Department of Dermatology, Pham Ngoc Thach University of Medicine, Ho Chi Minh City, Vietnam.
Department of Dermatology, Institute of Clinical Research and Medicine, Hanoi, Vietnam.
Indian J Dermatol Venereol Leprol. 2023 May-Jun;89(3):378-384. doi: 10.25259/IJDVL_1054_2021.
Background Generalized pustular psoriasis (GPP) is a chronic disease associated with genetic factors related to mutations of the interleukin 36 receptor antagonist gene (IL36RN) and the caspase recruitment domain 14 gene (CARD14). However, the relevance of these mutations to the clinical features and severity of GPP remains unclear. Aims Our objective was to correlate the presence of IL36RN and CARD14 mutations with the clinical and laboratory findings in patients with GPP. Methods This cross-sectional descriptive study was conducted in 64 subjects with GPP. Clinical manifestations were recorded and the severity was graded as mild, moderate, or severe. Routine laboratory tests were performed and blood samples were collected for Sanger sequencing. The clinical data of patients were compared among the different mutation groups. Results The two main variants of IL36RN were c.115+6T > C (p.Arg10ArgfsX1) and c.227C > T (p.Pro76Leu). The major CARD14 mutations were c.2458C > T (p.Arg820Trp), c.1641C > T (p.Arg547Ser), and c.1753G > A transitions. Provocative factors were uncommon in the group with both IL36RN and CARD14 mutations. Drugs (unspecified), especially herbals, were the most common triggers. A history of psoriasis was frequent in patients with only CARD14 mutations, but fever was uncommon. The c.1641C > T mutation was associated with leukocytosis > 15000/mm3 and the c.1753G > A mutation was associated with hypoalbuminemia <3.8g/dL. Both the c.115+6T > C and c.227C > T variants of IL36RN were associated with fever ≥38.5°C while the c.115+6T > C variant was also associated with geographic tongue. No gene mutations were associated with the total severity and severity grades. Limitations Four patients without the two major IL36RN mutations were excluded from the study. Conclusion The presence of IL36RN and CARD14 mutations were associated with a history of psoriasis, various provocative factors, fever, leukocytosis, hypoalbuminemia, and geographic tongue. Further studies to explore the role of these mutations in therapeutic efficacy and disease outcomes are necessary.
背景 全身性脓疱型银屑病（GPP）是一种与基因相关的慢性疾病，这些基因与白细胞介素 36 受体拮抗剂基因（IL36RN）和衔接蛋白 14 基因（CARD14）的突变有关。然而，这些突变与 GPP 的临床特征和严重程度的相关性尚不清楚。目的 我们旨在将 IL36RN 和 CARD14 突变的存在与 GPP 患者的临床和实验室发现相关联。方法 这是一项在 64 例 GPP 患者中进行的横断面描述性研究。记录临床表现，并对严重程度进行分级为轻度、中度或重度。进行常规实验室检查，并采集血样进行 Sanger 测序。比较不同突变组患者的临床数据。结果 IL36RN 的两个主要变体为 c.115+6T > C（p.Arg10ArgfsX1）和 c.227C > T（p.Pro76Leu）。CARD14 的主要突变为 c.2458C > T（p.Arg820Trp）、c.1641C > T（p.Arg547Ser）和 c.1753G > A 转换。在同时存在 IL36RN 和 CARD14 突变的组中，诱发因素并不常见。药物（未特指），特别是草药，是最常见的触发因素。仅有 CARD14 突变的患者中常伴有银屑病病史，但发热不常见。c.1641C > T 突变与白细胞计数 > 15000/mm3 有关，c.1753G > A 突变与低白蛋白血症 <3.8g/dL 有关。IL36RN 的 c.115+6T > C 和 c.227C > T 变体均与发热 ≥38.5°C 有关，而 c.115+6T > C 变体还与地图舌有关。两种基因的突变均与总严重程度和严重程度分级无关。局限性 有 4 例没有 IL36RN 两个主要突变的患者被排除在研究之外。结论 IL36RN 和 CARD14 突变的存在与银屑病病史、各种诱发因素、发热、白细胞增多、低白蛋白血症和地图舌有关。需要进一步研究这些突变在治疗效果和疾病结局中的作用。
