Papillon-Lefevre syndrome: analysis of HLA antigens

OBJECTIVES: Papillon-Lefevre syndrome (PLS) is a rare disease associated wi th prepubertal periodontitis, Our previous studies demonstrated that three unrelated patients with PLS showed the similar antigen-specific immune resp onses to Actinobacillus actinomycetemcomitans. The initiation of antigen-sp ecific immune responses was involved with human leukocyte antigens (HLA) on antigen-presenting cells. The aim of this study was to examine HLA haploty pes in the three patients with PLS, SUBJECTS AND METHODS: The three PLS patients, their mothers and the father of one patient participated in this study. HLA class I and class II antigen s were determined serologically and DNA typing for DRBI and DQBI was perfor med using the restriction fragment length polymorphism-polymerase chain rea ction method, RESULTS: The distribution of serologic HLA haplotypes, in two of three pati ents, was found to be quite similar. The DNA typing revealed that DRBI*0406 , DRBI*08032, DQBI*0302, DQBI*06011 genotypes were shared in the two patien ts. The probability of sharing these four DNA types in unrelated individual s was nearly 1:40,000 in the Japanese population, CONCLUSION: Our results suggest that HLA antigen may be included as a possi ble host factor in the pathogenesis of PLS and that a genetically controlle d immune response may account for an increased susceptibility to periodonta l infection.