Analysis of human leukocyte antigen class II gene polymorphism in Iranian patients with Papillon-Lefevre syndrome: a family study

Papillon-Lefevre syndrome [PLS] is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and early development of aggressive periodontitis. Although cathepsin C [CTSC] gene mutations have been established in about 70-80% of PLS patients, it is assumed that the patients may have dysfunctioning of immune defense mechanisms. To assess the association of HLA class II genes and PLS. HLA class II genes were typed in nine Iranian PLS patients and their family members and the results were compared to 816 Iranian healthy subjects. The results of this study revealed that DRB1*0101 and DRB1*0301 alleles were more frequent in PLS patients than in normal controls. However, there was no significant difference between PLS patients and normal controls. Moreover, the same haplotypes and genotype combinations were also observed in some patients and their healthy siblings. The results of this study showed no strong association between HLA class II alleles and PLS

HLA class I gene polymorphism in Iranian patients with papillon-lefevre syndrome

Papillon-Lefevre Syndrome [PLS] is a rare autosomal recessive disorder characterized by diffused palmoplantar keratoderma and severe periodontitis. Increased susceptibility to infections due to impairment of the immune system is considered to be involved in pathoetiology of this disease. According to the crucial function of HLA molecules in immune responses and association between certain HLA class I alleles and some periodontal or skin diseases, this study was designed to evaluate the relation of HLA class I genes and PLS. HLA class I genes were typed by PCR-SSP [Polymerase Chain Reaction with Sequence Specific Primers] method in eight Iranian PLS patients and 89 healthy controls. The results showed no significant difference between the patients and controls. Moreover, identical haplotypes or genotypes were also observed among PLS patients and their healthy siblings. It seems that further genes are involved in genetic susceptibility to PLS. However the results of this study showed no significant association between HLA class I genes and PLS, molecular analyses of killer immunoglobulin-like receptors [KIRs] and MHC class I chain-related gene A and B [MICA/B] in PLS may clear many obscure points about the genetic factors involved in these diseases