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A rare CTSC mutation in Papillon-Lefèvre Syndrome results in abolished serine protease activity and reduced NET formation but otherwise normal neutrophil function.
Sanchez Klose FP, Björnsdottir H, Dahlstrand Rudin A, Persson T, Khamzeh A, Sundqvist M, Thorbert-Mros S, Dieckmann R, Christenson K, Bylund J. Sanchez Klose FP, et al. PLoS One. 2021 Dec 21;16(12):e0261724. doi: 10.1371/journal.pone.0261724. eCollection 2021. PLoS One. 2021. PMID: 34932608 Free PMC article.