دورية أكاديمية
أعرض في EDS

Family study of monozygotic twins affected by pemphigus vulgaris.

التفاصيل البيبلوغرافية
العنوان: Family study of monozygotic twins affected by pemphigus vulgaris.
المؤلفون: Salathiel AM; Laboratory of Dermatology, University Hospital, Division of Dermatology, Department of Medical Clinics, Ribeirao Preto Medical School - University of Sao Paulo, Brazil., Brochado MJ; Laboratory of Dermatology, University Hospital, Division of Dermatology, Department of Medical Clinics, Ribeirao Preto Medical School - University of Sao Paulo, Brazil., Kim O; Laboratory of Dermatology, University Hospital, Division of Dermatology, Department of Medical Clinics, Ribeirao Preto Medical School - University of Sao Paulo, Brazil., Deghaide NH; Laboratory of Immunogenetics of Blood Donor Center, Division of Immunology, Department of Medical Clinics, Ribeirao Preto Medical School - University of Sao Paulo, Brazil., Donadi EA; Laboratory of Immunogenetics of Blood Donor Center, Division of Immunology, Department of Medical Clinics, Ribeirao Preto Medical School - University of Sao Paulo, Brazil., Roselino AM; 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.
المصدر: Human immunology [Hum Immunol] 2016 Jul; Vol. 77 (7), pp. 600-4. Date of Electronic Publication: 2016 May 10.
نوع المنشور: Case Reports; Journal Article; Review; Twin Study
اللغة: English
بيانات الدورية: Publisher: Elsevier/North-Holland Country of Publication: United States NLM ID: 8010936 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1166 (Electronic) Linking ISSN: 01988859 NLM ISO Abbreviation: Hum Immunol Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [New York] Elsevier/North-Holland.
مواضيع طبية MeSH: HLA-DQ alpha-Chains/*genetics , HLA-DQ beta-Chains/*genetics , HLA-DRB1 Chains/*genetics , Pemphigus/*genetics, Adolescent ; Adrenal Cortex Hormones/therapeutic use ; Autoantibodies/blood ; Brazil ; Desmoglein 1/immunology ; Desmoglein 3/immunology ; Drug Resistance ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Pedigree ; Pemphigus/diagnosis ; Pemphigus/drug therapy ; Polymorphism, Genetic ; Twins, Monozygotic/genetics
مستخلص: 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.
(Copyright © 2016 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.)
فهرسة مساهمة: Keywords: Anti-desmoglein antibodies; Family study; HLA-alleles and haplotypes; Pemphigus foliaceus; Pemphigus vulgaris; Twins
المشرفين على المادة: 0 (Adrenal Cortex Hormones)
0 (Autoantibodies)
0 (DSG1 protein, human)
0 (DSG3 protein, human)
0 (Desmoglein 1)
0 (Desmoglein 3)
0 (HLA-DQ alpha-Chains)
0 (HLA-DQ beta-Chains)
0 (HLA-DQA1 antigen)
0 (HLA-DQB1 antigen)
0 (HLA-DRB1 Chains)
تواريخ الأحداث: Date Created: 20160515 Date Completed: 20170217 Latest Revision: 20170217
رمز التحديث: 20240628
DOI: 10.1016/j.humimm.2016.05.005
PMID: 27177496
قاعدة البيانات: MEDLINE
الوصف
تدمد:1879-1166
DOI:10.1016/j.humimm.2016.05.005