Family study of monozygotic twins affected by pemphigus vulgaris

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• 作者：Adriana Martinelli Salathiel^a ; ¹ ; Maria José ; Franco Brochado^a ; ¹ ; Olivia Kim^a ; Neifi Hassan Saloum Deghaide^b ; Eduardo Antonio Donadi^b ; Ana Maria Roselino^a ; ^{amfrosel@fmrp.usp.br" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Anti-Dsg ; antibodies against desmoglein ; Dsg ; desmoglein ; PF ; pemphigus foliaceus ; PV ; pemphigus vulgaris
• 刊名：Human Immunology
• 出版年：2016
• 出版时间：July 2016
• 年：2016
• 卷：77
• 期：7
• 页码：600-604
• 全文大小：572 K

文摘

Rare are the family studies that include siblings affected by pemphigus vulgaris (PV) and in whom HLA class II alleles are related. HLA-DR and -DQ genotyping and profiling of antibodies against desmogleins (Dsg) 1 and Dsg3 were performed in ten members of a family including monozygotic twins affected by PV. The twin sisters were heterozygotes; they presented the haplotypes most commonly associated with increased susceptibility to PV (DRB1∗04:02-DQA1∗03:01-DQB1∗03:02 and DRB1∗14:04-DQA1∗01:01-DQB1∗05:03). Their parents and five siblings had only one or none of these two haplotypes in combination with the alleles or haplotypes associated with resistance to PV (DRB1∗07:01-DQA1∗02:01-DQB1∗02:02 and DRB1∗13:01-DQA1∗01:03-DQB1∗06:03). Only the monozygotic twins presented IgG antibodies against both Dsg1 and Dsg3. According to our knowledge based on a review of published literature on the topic, this is the first report of PV affecting monozygotic twins.