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Pemphigus vulgaris in two pairs of siblings from two unrelated Italian families: Human leukocyte antigen genotypes, ST18 mutation and immunological profile
Author(s) -
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
Publication year - 2021
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.15656
Subject(s) - pemphigus vulgaris , genotype , antigen , biology , immunology , genetics , gene
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.