A rare CTSC mutation in Papillon-Lefevre Syndrome results in abolished serine protease activity and reduced NET formation but otherwise normal neutrophil function.

ABSTRACT: Papillon-Lefèvre Syndrome (PLS) is an autosomal recessive monogenic disease caused by loss-of-function mutations in the CTSC gene, thus preventing the synthesis of the protease Cathepsin C (CTSC) in a proteolytically active form. CTSC is responsible for the activation of the pro-forms of the neutrophil serine proteases (NSPs; Elastase, Proteinase 3 and Cathepsin G), suggesting its involvement in a variety of neutrophil functions. In PLS neutrophils, the lack of CTSC protease activity leads to inactivity of the NSPs. Clinically, PLS is characterized by an early, typically pre-pubertal, onset of severe periodontal pathology and palmoplantar hyperkeratosis. However, PLS is not considered an immune deficiency as patients do not typically suffer from recurrent and severe (bacterial and fungal)

SUBMITTER: Sanchez Klose FP 

PROVIDER: S-EPMC8691626 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature