Tỷ lệ và các kiểu đột biến gen IL36RN và CARD14 ở bệnh nhân vảy nến thể mủ ở Việt Nam

To identify the prevalence and mutations of IL36RN and CARD14 genes in patients with pustular psoriasis in Vietnam. Subject and method: A cross-sectional descriptive study included 64 patients with pustular psoriasis at Ho Chi Minh City (HCMC) Dermatology Hospital and Hanoi Central Institute of Dermatology. Blood samples (2ml) were collected for sequencing to identify mutations in the IL36RN and CARD14 genes. The process was performed at the Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City. Result: The prevalence of IL36RN and CARD14 mutations in patients with pustular psoriasis in Vietnam were 50% and 78.1%, respectively. The rate of IL36RN mutation alone was 15.62%, CARD14 mutation alone was 43.75%, and 34.38% of patients carrying both gene mutations. In the IL36RN gene, the common variations included: c.115+6T>C (32.8%) and c.227C>T (17.2%). Notably, the c.227C>T variation was always accompanied by the c.115+6T>C variation. In the CARD14 gene, the most common varations were c.1641C>T (39.1%), c.1753G>A (28.2%) and c.2458C>T (64.1%). Conclusion: The IL36RN and CARD14 gene mutations account for a relatively high proportion in patients with pustular psoriasis in Vietnam.