Salivary Samples for the Diagnosis of Pemphigus vulgaris Using the BIOCHIP Approach: a Pilot Study

none4Pemphigus vulgaris (PV) is a rare autoimmune intraepithelial blistering skin disease characterized by the presence of circulating autoantibodies against desmoglein 3 (DSG3) and desmoglein 1 (DSG1), resulting in loss of the normal epithelial cell-to-cell adhesion, through a process called acantholysis. In recent years, a BIOCHIP-based indirect immunofluorescence technique for the determination of anti-DSG3 and anti-DSG1 autoantibodies has been described. Even though, the use of saliva anti-DSG3 and anti-DSG1 ELISA for the diagnosis of PV has been already reported, there are no studies concerning the utilization of saliva by the BIOCHIP approach. In the present pilot study, ELISA and BIOCHIP were performed, using salivary and serum samples from the same patients to investigate if the detection of anti-desmoglein autoantibodies in salivary samples by BIOCHIP could be used as a test for the diagnosis of PV. There was a strong correlation between ELISA and BIOCHIP results both for anti-DSG3 and anti-DSG1 serum autoantibodies. Autoantibodies to DSG3 were detected in 8 out of 8 salivary samples by ELISA and in 6 out of 8 salivary samples by the BIOCHIP approach. Autoantibodies to DSG1 were negative in all salivary samples using both ELISA and BIOCHIP. There were no positive results in the negative control group. In conclusion, the results of this pilot study indicate lack of correlation between serum and salivary results using both ELISA and BIOCHIP, indicating that saliva may not be the ideal substrate for the laboratory diagnosis of PV using these approaches.noneRusso, Irene; Saponeri, Andrea; Michelotto, Anna; Alaibac, MauroRusso, Irene; Saponeri, Andrea; Michelotto, Anna; Alaibac, MAURO SALVATORE ALESSANDR

Association between Toll-like receptor 7 Gln11Leu single-nucleotide polymorphism and basal cell carcinoma

Non-melanoma skin cancers (NMSC) are the most common form of human skin cancer. The majority of NMSC are basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) with a BCC:SCC incidence ratio of 4:1 in immunocompetent patients. Toll-like receptors (TLRs) are transmembrane glycoproteins that recognize pathogen-associated molecular patterns and damage-associated molecular patterns, against which they activate the innate immune response and initiate the adaptive immune response. Genetic variations of these receptors can alter the immune system and are involved in evolution and susceptibility of various diseases, including cancer. Imiquimod, an agonist of TLR7, is applied topically in the treatment of premalignant and malignant skin disorders, in particular BCC. The high efficacy of this TLR7 agonist toward BCC supports a possible role of this receptor in the induction of BCC and, consequently, polymorphisms of this receptor could be responsible for a greater or lesser susceptibility to BCC. The aim of the present study was to evaluate whether the presence of the functional TLR7 rs179008/Gln11Leu promoter polymorphism conferred an increased susceptibility to BCC. A case-control study with 177 BCC cases and 158 controls was performed to highlight the possible association between this polymorphism and the susceptibility to BCC. As the TLR7 gene is localized on chromosome X, the allelic frequency of this polymorphism was analyzed separately in males and females. The analysis of the distribution of frequencies of wild-type TLR7 and variant TLR7 carrying the single-nucleotide polymorphism (SNP) rs179008 in patients with BCC and healthy subjects did not reveal any statistically significant difference between cases and controls. This study does not suggest the involvement of the SNP rs179008 of TLR7 in the susceptibility to BCC, but cannot exclude a role for TLR7 in BCC carcinogenesis considering the high efficacy of the TLR7 agonist, imiquimod, in the treatment of this neoplastic disorder