부산대학교 도서관

Sjögren’s syndrome (SjS) is an autoimmune exocrinopathy with a frequency of familial occurrence of 2.2% in Japanese. Recent investigations have shown strong associations between SjS and genetic factors encoded by the major histocompatibility complex (MHC). We presented four patients with SjS in one family. A 29-year-old Japanese woman had annular erythema on the face with anti-SS-A, SS-B antibodies positivity. She was diagnosed with primary SjS. Her male infant also had positive anti-SS-A, SS-B antibodies with indurative erythema. He was diagnosed as having neonatal LE. Other members of her family were also affected. Her younger sister suffered from dry mouth and eyes with Raynaud’s phenomenon and arthritis. She had detectable antibodies against anti-SS-A, RF, Scl-70 and RNP antigens. She was diagnosed with rheumatoid arthritis, SjS and systemic sclerosis. Her mother presented positive anti-SS-A and SS-B antibodies with dry mouth and eyes and was diagnosed with primary SjS. Six members of the family were then analyzed for MHC classes. HLA-A11, B39 and DR8 antigens were expressed in all members, but only four of them were diagnosed as SjS/NLE. The development of SjS appears to result from a complex interplay of multiple HLA-linked and non-HLA linked genetic factors.