Papillon-Lefèvre Syndrome: Correlating the Molecular, Cellular, and Clinical Consequences of Cathepsin C/Dipeptidyl Peptidase I Deficiency in Humans
نویسندگان
چکیده
منابع مشابه
Papillon-Lefèvre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans.
A variety of neutral serine proteases are important for the effector functions of immune cells. The neutrophil-derived serine proteases cathepsin G and neutrophil elastase are implicated in the host defense against invading bacterial and fungal pathogens. Likewise, the cytotoxic lymphocyte and NK cell granule-associated granzymes A and B are important for the elimination of virus-infected cells...
متن کاملPapillon-Lefèvre syndrome.
Papillon- Lefèvre syndrome (PLS) is a rare autosomal recessive disorder of keratinization characterized by palmoplantar hyperkeratosis, periodontopathy and precocious loss of dentition. The exact pathomechanism of these clinical events mainly remains speculative. This paper describes two cases of PLS with classic clinical features and briefly review the relevant literature.
متن کاملHaim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C.
Of the many palmoplantar keratoderma (PPK) conditions, only Papillon-Lefèvre syndrome (PLS) and Haim-Munk syndrome (HMS) are associated with premature periodontal destruction. Although both PLS and HMS share the cardinal features of PPK and severe periodontitis, a number of additional findings are reported in HMS including arachnodactyly, acro-osteolysis, atrophic changes of the nails, and a ra...
متن کاملPapillon–Lefèvre syndrome: clinical presentation and management options
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder, characterized by diffuse palmoplantar keratoderma and precocious aggressive periodontitis, leading to premature loss of deciduous and permanent dentition at a very young age. Various etiopathogenic factors are associated with the syndrome, like immunologic alterations, genetic mutations, and the role of bacteria. Dentists p...
متن کاملPreventive periodontal regimen in Papillon-Lefèvre syndrome.
PURPOSE The purpose of this study was to evaluate the effect of a comprehensive preventive program, based on mechanical plaque control and local and systemic antibacterial measures, on periodontal health and preservation of permanent teeth in patients with Papillon-Lefèvre syndrome (PLS). METHODS Thirty-five consecutive PLS patients (median age=7 years; range=3-19 years) were treated and foll...
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ژورنال
عنوان ژورنال: The Journal of Immunology
سال: 2004
ISSN: 0022-1767,1550-6606
DOI: 10.4049/jimmunol.173.12.7277