Fania Luca, Moro Francesco, De Paolis Elisa, Provini Alessia, Salemme Adele, Mariotti Feliciana, Sinagra Jo Linda Maria, Mazzanti Cinzia, Ruzzi Laura, Capoluongo Ettore, Di Zenzo Giovanni
First Dermatology Division, IDI-IRCCS, Rome, Italy.
Molecular Diagnostics and Genomics Laboratory, Fondazione Policlinico Universitario A. Gemelli IRCCS, Italy.
J Dermatol. 2021 Feb;48(2):211-214. doi: 10.1111/1346-8138.15656. Epub 2020 Dec 1.
Pemphigus vulgaris (PV) is an autoimmune intraepithelial bullous disease. Associations with the class II human leukocyte antigen (HLA) alleles and pemphigus vulgaris have been described. Furthermore, an association between the single nucleotide polymorphism of the ST18 gene and pemphigus vulgaris has been reported. We report two pairs of siblings from two unrelated Italian families affected by pemphigus vulgaris, characterizing their genetic and immunological profile. In order to assess the genetic background, HLA-DQA1, HLA-DQB1, HLA-DRB1 and a relevant ST18 polymorphism were investigated. As for the immunological profiles, anti-desmoglein antibodies were analyzed. In family A, the two pemphigus vulgaris patients had the same HLA genetic profile: HLA-DQA1 *01:04/*03:01, HLA-DQB1 *03:02/*05:03 and HLA-DRB1 *04:02/*14:01. The male patient was heterozygous for the ST18 mutation while the female patient had a wild genotype. In family B, the two pemphigus vulgaris patients were both wild type for the ST18 mutation and showed the same HLA genotype: HLA-DQA1 *03:01/*05:08, HLA-DQB1 *03:01/*03:03 and HLA-DRB1 *04:02/*11:01. Our data show a relevant relationship between the HLA profile and pemphigus vulgaris in our Italian families. In family A, all six alleles are frequently associated with pemphigus vulgaris and were expressed only in the two pemphigus patients; and in family B, two of the six alleles are frequently associated with pemphigus vulgaris. No relevant relationship was found between ST18 polymorphism and pemphigus disease.
寻常型天疱疮（PV）是一种自身免疫性上皮内大疱性疾病。已有关于II类人类白细胞抗原（HLA）等位基因与寻常型天疱疮相关性的描述。此外，还报道了ST18基因单核苷酸多态性与寻常型天疱疮之间的关联。我们报告了来自两个不相关意大利家庭的两对受寻常型天疱疮影响的兄弟姐妹，并对他们的遗传和免疫特征进行了描述。为了评估遗传背景，研究了HLA - DQA1、HLA - DQB1、HLA - DRB1以及一个相关的ST18多态性。至于免疫特征，分析了抗桥粒芯糖蛋白抗体。在A家族中，两名寻常型天疱疮患者具有相同的HLA遗传特征：HLA - DQA1 *01:04/*03:01、HLA - DQB1 *03:02/*05:03和HLA - DRB1 *04:02/*14:01。男性患者ST18突变呈杂合子状态，而女性患者为野生基因型。在B家族中，两名寻常型天疱疮患者ST18突变均为野生型，且显示相同的HLA基因型：HLA - DQA1 *03:01/*05:08、HLA - DQB1 *03:01/*03:03和HLA - DRB1 *04:02/*11:01。我们的数据显示在我们的意大利家庭中HLA特征与寻常型天疱疮之间存在显著关系。在A家族中，所有六个等位基因都常与寻常型天疱疮相关，且仅在两名天疱疮患者中表达；而在B家族中，六个等位基因中的两个常与寻常型天疱疮相关。未发现ST18多态性与天疱疮疾病之间存在显著关系。
