Pénfigo vulgar familiar: estudio inmunogenético de los antígenos HLA clase II

Abstract

Introduction Pemphigus 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. Objectives Study of three families with PV. Patients and methods In 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. Results All 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. Conclusion These results support the concept of genetic predisposition in this rare disease.