{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:19:50Z","timestamp":1747181990235,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pemphigus vulgaris (PV) is an autoimmune intraepithelial bullous disease. Associations with the class II human leukocyte antigen (<jats:italic>HLA<\/jats:italic>) alleles and pemphigus vulgaris have been described. Furthermore, an association between the single nucleotide polymorphism of the <jats:italic>ST18<\/jats:italic> 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, <jats:italic>HLA\u2010DQA1<\/jats:italic>, <jats:italic>HLA\u2010DQB1<\/jats:italic>, <jats:italic>HLA\u2010DRB1<\/jats:italic> and a relevant <jats:italic>ST18<\/jats:italic> polymorphism were investigated. As for the immunological profiles, anti\u2010desmoglein antibodies were analyzed. In family A, the two pemphigus vulgaris patients had the same <jats:italic>HLA<\/jats:italic> genetic profile: <jats:italic>HLA\u2010DQA1 *01:04\/*03:01, HLA\u2010DQB1 *03:02\/*05:03<\/jats:italic> and <jats:italic>HLA\u2010DRB1 *04:02\/*14:01<\/jats:italic>. The male patient was heterozygous for the <jats:italic>ST18<\/jats:italic> mutation while the female patient had a wild genotype. In family B, the two pemphigus vulgaris patients were both wild type for the <jats:italic>ST18<\/jats:italic> mutation and showed the same <jats:italic>HLA<\/jats:italic> genotype: <jats:italic>HLA\u2010DQA1 *03:01\/*05:08, HLA\u2010DQB1 *03:01\/*03:03<\/jats:italic> and <jats:italic>HLA\u2010DRB1 *04:02\/*11:01<\/jats:italic>. Our data show a relevant relationship between the <jats:italic>HLA<\/jats:italic> 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 <jats:italic>ST18<\/jats:italic> polymorphism and pemphigus disease.<\/jats:p>","DOI":"10.1111\/1346-8138.15656","type":"journal-article","created":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T17:49:03Z","timestamp":1606844943000},"page":"211-214","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Pemphigus vulgaris in two pairs of siblings from two unrelated Italian families: Human leukocyte antigen genotypes, ST18 mutation and immunological profile"],"prefix":"10.1111","volume":"48","author":[{"given":"Luca","family":"Fania","sequence":"first","affiliation":[{"name":"First Dermatology Division IDI\u2010IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0031-941X","authenticated-orcid":false,"given":"Francesco","family":"Moro","sequence":"additional","affiliation":[{"name":"First Dermatology Division IDI\u2010IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"De Paolis","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics and Genomics Laboratory Fondazione Policlinico Universitario A. 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