PEMPHIGUS-VULGARIS IN DISTANT RELATIVES OF 2 FAMILIES - ASSOCIATION WITH MAJOR HISTOCOMPATIBILITY COMPLEX CLASS-II GENES

We describe major histocompatibility complex (MHC) class II gene haplo types in two extended families, each of which has two members with pem phigus vulgaris (PV). One family is of Ashkenazi Jewish descent and th e other family of English-Scottish descent. In one family the patients are distant relatives; in the other, both share the same mother but h ave different fathers. The affected relatives in the two families have never shared a common environment and live in distant states. All fou r PV patients, regardless of whether they were of Ashkenazi Jewish or of English-Scottish descent, had the same haplotype, namely HLA-DRB10 402, DQA10301, DQB1*0302. Thus the PV patients, even though distantly related within a family, had the same MHC class II haplotype previous ly documented in Jewish patients. This observation further supports th e concept that PV may result from an enhanced genetic susceptibility o r predisposition to the disease.