title: Family study of monozygotic twins affected by pemphigus vulgaris.
abstract: 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.
authors.affiliation: Laboratory of Dermatology, University Hospital, Division of Dermatology, Department of Medical Clinics, Ribeirao Preto Medical School - University of Sao Paulo, Brazil.
authors.forename: Adriana Martinelli
authors.initials: AM
authors.lastname: Salathiel
authors.affiliation: Laboratory of Dermatology, University Hospital, Division of Dermatology, Department of Medical Clinics, Ribeirao Preto Medical School - University of Sao Paulo, Brazil.
authors.forename: Maria José Franco
authors.initials: MJ
authors.lastname: Brochado
authors.affiliation: Laboratory of Dermatology, University Hospital, Division of Dermatology, Department of Medical Clinics, Ribeirao Preto Medical School - University of Sao Paulo, Brazil.
authors.forename: Olivia
authors.initials: O
authors.lastname: Kim
authors.affiliation: Laboratory of Immunogenetics of Blood Donor Center, Division of Immunology, Department of Medical Clinics, Ribeirao Preto Medical School - University of Sao Paulo, Brazil.
authors.forename: Neifi Hassan Saloum
authors.initials: NH
authors.lastname: Deghaide
authors.affiliation: Laboratory of Immunogenetics of Blood Donor Center, Division of Immunology, Department of Medical Clinics, Ribeirao Preto Medical School - University of Sao Paulo, Brazil.
authors.forename: Eduardo Antonio
authors.initials: EA
authors.lastname: Donadi
authors.affiliation: Laboratory of Dermatology, University Hospital, Division of Dermatology, Department of Medical Clinics, Ribeirao Preto Medical School - University of Sao Paulo, Brazil. Electronic address: amfrosel@fmrp.usp.br.
authors.forename: Ana Maria
authors.initials: AM
authors.lastname: Roselino
mesh_terms: D000293:Adolescent; D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D001323:Autoantibodies / Q000097:blood; D001938:Brazil; D051183:Desmoglein 1 / Q000276:immunology; D051184:Desmoglein 3 / Q000276:immunology; D004351:Drug Resistance; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D059848:HLA-DQ alpha-Chains / Q000235:genetics*; D059866:HLA-DQ beta-Chains / Q000235:genetics*; D059811:HLA-DRB1 Chains / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D010392:Pemphigus / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D011110:Polymorphism, Genetic; D014430:Twins, Monozygotic / Q000235:genetics
chemical_list: D000305:Adrenal Cortex Hormones; D001323:Autoantibodies; C495297:DSG1 protein, human; C071894:DSG3 protein, human; D051183:Desmoglein 1; D051184:Desmoglein 3; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; C069050:HLA-DQA1 antigen; C069051:HLA-DQB1 antigen; D059811:HLA-DRB1 Chains
keywords: Anti-desmoglein antibodies; Family study; HLA-alleles and haplotypes; Pemphigus foliaceus; Pemphigus vulgaris; Twins