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

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

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 neutrop...

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Main Authors: Felix P Sanchez Klose, Halla Björnsdottir, Agnes Dahlstrand Rudin, Tishana Persson, Arsham Khamzeh, Martina Sundqvist, Sara Thorbert-Mros, Régis Dieckmann, Karin Christenson, Johan Bylund
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2021-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0261724

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https://doi.org/10.1371/journal.pone.0261724

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