Papillon-Lefevre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans

CTN Pham, JL Ivanovich, SZ Raptis… - The Journal of …, 2004 - journals.aai.org
CTN Pham, JL Ivanovich, SZ Raptis, B Zehnbauer, TJ Ley
The Journal of Immunology, 2004journals.aai.org
A variety of neutral serine proteases are important for the effector functions of immune cells.
The neutrophil-derived serine proteases cathepsin G and neutrophil elastase are implicated
in the host defense against invading bacterial and fungal pathogens. Likewise, the cytotoxic
lymphocyte and NK cell granule-associated granzymes A and B are important for the
elimination of virus-infected cells. The activation of many of these serine proteases depends
on the N-terminal processing activity of the lysosomal cysteine protease cathepsin …
Abstract
A variety of neutral serine proteases are important for the effector functions of immune cells. The neutrophil-derived serine proteases cathepsin G and neutrophil elastase are implicated in the host defense against invading bacterial and fungal pathogens. Likewise, the cytotoxic lymphocyte and NK cell granule-associated granzymes A and B are important for the elimination of virus-infected cells. The activation of many of these serine proteases depends on the N-terminal processing activity of the lysosomal cysteine protease cathepsin C/dipeptidyl peptidase I (DPPI). Although mice deficient in DPPI have defects in serine protease activation in multiple cellular compartments, the role of DPPI for human serine protease activation is largely undefined. Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disease associated with loss-of-function mutations in the DPPI gene locus. In this study, we established that the loss of DPPI activity is associated with severe reduction in the activity and stability of neutrophil-derived serine proteases. Surprisingly, patients with PLS retain significant granzyme activities in a cytotoxic lymphocyte compartment (lymphokine-activated killer) and have normal lymphokine-activated killer-mediated cytotoxicity against K562 cells. Neutrophils from patients with PLS do not uniformly have a defect in their ability to kill Staphylococcus aureus and Escherichia coli, suggesting that serine proteases do not represent the major mechanism used by human neutrophils for killing common bacteria. Therefore, this study defines the consequences of DPPI deficiency for the activation of several immune cell serine proteases in humans, and provides a molecular explanation for the lack of a generalized T cell immunodeficiency phenotype in patients with PLS.
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