Papillon-Lefèvre syndrome (PLS) results from mutations that inactivate cysteine protease cathepsin C (CTSC), which processes a variety of serine proteases considered essential for antimicrobial defense. Despite serine protease–deficient immune cell populations, PLS patients do not exhibit marked immunodeficiency. Here, we characterized a 24-year-old woman who had suffered from severe juvenile periodontal disease, but was otherwise healthy, and identified a homozygous missense mutation in
Ole E. Sørensen, Stine N. Clemmensen, Sara L. Dahl, Ole Østergaard, Niels H. Heegaard, Andreas Glenthøj, Finn Cilius Nielsen, Niels Borregaard
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