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Clinical and immunological findings in 2 siblings with Papillon-Lefèvre syndrome
E Firatli1, N Gürel, A Efeoglu
1Department of Periodontology, School of Dentistry, University of Istanbul, Turkey.
Insights
Papillon-Lefèvre syndrome causes severe early childhood gum disease. This study found elevated CD11b expression and potential neutrophil defects in affected siblings, offering insights into the syndrome's cause.
Area of Science:
- Immunology
- Genetics
- Pediatric Dentistry
Background:
- Papillon-Lefèvre syndrome is a rare genetic disorder characterized by severe periodontitis and palmoplantar hyperkeratosis.
- Early childhood onset of rapid periodontal tissue destruction is a hallmark, affecting both healthy and systemically compromised children.
Observation:
- This study examined two siblings with Papillon-Lefèvre syndrome.
- Peripheral blood lymphocytes were analyzed using flow cytometry for various cell surface receptors.
Findings:
- Both siblings exhibited higher CD11b expression (35% and 37%), potentially indicating a neutrophil defect.
- While natural killer cell expression was elevated in one sibling, it remained within normal ranges. Other lymphocyte populations (CD2+, CD3+, CD4+, CD5+, CD8+, CD19+) were normal.
- Elevated HLA-DR and CD11b molecule expression in peripheral leukocytes was observed.
Implications:
- The findings suggest that depressed neutrophil chemotaxis and increased HLA-DR and CD11b expression may contribute to the pathogenesis of Papillon-Lefèvre syndrome.
- Understanding these immunological aspects can aid in developing targeted therapeutic strategies.
- Further research into neutrophil function and leukocyte markers is warranted for Papillon-Lefèvre syndrome.
Abstract:
Rapid and severe destruction of periodontal tissues in early childhood has been reported both in systemically healthy children and in children with systemic disorders. In this study, the clinical and immunological findings of two siblings in a family with Papillon-Lefèvre syndrome are presented. The peripheral blood lymphocytes were analyzed using a double colored flow cytometry and adequate monoclonal antibodies to CD2, CD3, CD4, CD5, CD8, CD11b, CD16, CD19, and HLA-DR receptors. CD11b expression was found to be higher in both siblings (35% and 37%). The elevated CD11b expression may be related to a defect in neutrophils. The expression of natural killer cells was found to be higher in one patient but the results were in normal range. The CD2+, CD3+, CD4+, CD5+, CD8+, and CD19+ lymphocytes were in normal range in both patients. We think that the depressed chemotaxis of peripheral neutrophils, and higher expression of HLA-DR and CD11b molecules in peripheral leukocytes were useful in explaining the pathogenesis of the Papillon-Lefèvre syndrome.