دورية أكاديمية
Family study of monozygotic twins affected by pemphigus vulgaris.
العنوان: | Family study of monozygotic twins affected by pemphigus vulgaris. |
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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 |
تدمد: | 1879-1166 |
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DOI: | 10.1016/j.humimm.2016.05.005 |