Autophagic dysfunction in patients with Papillon-Lefèvre syndrome is restored by recombinant cathepsin C treatment
نویسندگان
چکیده
منابع مشابه
Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients.
We describe a mutation and haplotype analysis of Papillon-Lefèvre syndrome probands that provides evidence of a founder effect for four separate cathepsin C mutations. A total of 25 different cathepsin C mutations have been reported in 32 families with Papillon-Lefèvre syndrome (PLS) and associated conditions. A characteristic of these findings is the diversity of different cathepsin C mutation...
متن کاملIdentification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients.
INTRODUCTION Papillon-Lefèvre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar keratoderma and severe, early onset periodontitis, which results from deficiency of cathepsin C activity secondary to mutations in the cathepsin C gene. To date, 13 different cathepsin C mutations have been reported in PLS patients, all of which are homozygous for a given mutation, refl...
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.
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 کاملCephalometric findings in patients with Papillon-Lefèvre syndrome.
INTRODUCTION Literature regarding oral conditions in patients with Papillon-Lefèvre syndrome (PLS) often covers the periodontal aspects, but no literature was found describing specific craniofacial findings in this group. The aim of this retrospective study was to investigate the cephalometric findings of patients with PLS. METHODS Lateral cephalograms of 8 patients with PLS were traced, and ...
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ژورنال
عنوان ژورنال: Journal of Allergy and Clinical Immunology
سال: 2018
ISSN: 0091-6749
DOI: 10.1016/j.jaci.2018.01.018