Bordel-Gómez Maria Teresa, Sánchez-Estella Juan, Yuste-Chaves Manuela, Santos-Durán Juan Carlos, Alonso-San Pablo Maria Teresa
Servicio de Dermatología, Complejo Asistencial Virgen de la Concha, Zamora, España.
Actas Dermosifiliogr. 2006 Oct;97(8):509-13. doi: 10.1016/s0001-7310(06)73452-4.
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-DRB10402 DQB10302 and HLA-DRB11401 DQB10503 haplotypes that bestows a significant risk of disease.
Study of three families with PV.
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.
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 of the patients have the same haplotype is of special interest.
These results support the concept of genetic predisposition in this rare disease.
寻常型天疱疮（PV）是一种罕见的自身免疫性大疱性疾病，累及皮肤和黏膜，其特征是存在针对桥粒芯糖蛋白3的抗体，该抗体导致棘层松解和表皮内水疱形成。在同一家族的多名成员中观察到PV病例，提示存在导致易患该病的遗传因素。然而，家族性PV的病例描述非常少。基于其自身免疫性质，许多研究发现PV与人类白细胞抗原（HLA）II类等位基因之间存在关联，特别是与HLA - DRB10402 DQB10302和HLA - DRB11401 DQB10503单倍型相关，这些单倍型赋予了显著的患病风险。
对三个患有PV的家族进行研究。
在本研究中，我们展示了三个家族，共有7名患者被诊断为家族性PV。通过聚合酶链反应（PCR）技术对这些家族的多名成员进行了HLA抗原测定。
所有受影响的受试者HLA DR4和HLA DR14均为阳性。不同的PV家族与相同单倍型相关，且患者的健康兄弟姐妹具有相同单倍型这一事实特别令人关注。
这些结果支持了这种罕见疾病存在遗传易感性的概念。
