Familial pemphigus vulgaris: immunogenetic study of HLA class II antigens |
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| Authors: | Bordel-Gómez Maria Teresa Sánchez-Estella Juan Yuste-Chaves Manuela Santos-Durán Juan Carlos Alonso-San Pablo Maria Teresa |
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| Institution: | 1. Dermatology Unit, Presidente Prudente Regional Hospital, University of Oeste Paulista, Presidente Prudente, SP, Brazil;2. Department of Dermatology, São Paulo Federal University, São Paulo, SP, Brazil;3. Multiuser Molecular Biology Laboratory, Division of Dermatology, Department of Clinical Medicine, Ribeirão Preto College of Medicine, University of São Paulo, Ribeirão Preto, SP, Brazil;4. Department of Pathology, Adolfo Lutz Institute, São Paulo, SP, Brazil;1. Unidad de Endocrinología, Nutrición y Riesgo Vascular, Complejo Hospitalario Torrecárdenas, Almería, España;2. Servicio de Endocrinología, Clínica San Pedro, Almería, España;3. Unidad de Endocrinología, HGU Rafael Méndez, Murcia, España;1. Universidade Estadual Paulista, Botucatu, SP, Brazil;2. Universidade de São Paulo, Ribeirão Preto, SP, Brazil;3. Universidade Federal de Pelotas, Pelotas, RS, Brazil;4. Universidade Católica de Pelotas, Pelotas, RS, Brazil;1. Servicio de Dermatología, Hospital General Universitario de Ciudad Real, Ciudad Real, España;2. Servicio de Reumatología, Hospital General Universitario de Ciudad Real, Ciudad Real, España;1. Service de dermatologie, centre hospital-universitaire Hédi Chaker, 3089 Sfax, Tunisie;2. Laboratoire de pharmacologie, faculté de médecine de Sfax, 3029 Sfax, Tunisie |
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| Abstract: | IntroductionPemphigus vulgaris (PV) is a rare autoimmune bullous disease that affects the skin and mucosae, characterized by the presence of antibodies against desmoglein 3, that causes acantholisis and formation of intraepidermal blisters. Observation of PV cases in several members of the same family suggests the existence of genetic factors that contribute to susceptibility to suffer the disease. However, very few cases of familial PV have been described. Based on its autoimmune nature, many studies have found an association between PV and the HLA class II allele, specifically with the HLA-DRB1*0402 DQB1*0302 and HLA-DRB1*1401 DQB1*0503 haplotypes that bestows a significant risk of disease.ObjectivesStudy of three families with PV.Patients and methodsIn this study, we present three families, with a total of 7 patients, diagnosed of familial PV. HLA antigens were determined with the PCR (polymerase chain reaction) technique in several members of these families.ResultsAll the subjects affected were positive for HLA DR4 and HLA DR14. The fact that different families with PV are associated with identical haplotypes and that healthy siblings ofthe patients have the same haplotype is of special interest.ConclusionThese results support the concept of genetic predisposition in this rare disease. |
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