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Severe chronic non-bacterial osteomyelitis in combination with total MPO deficiency and responsiveness to TNFα inhibition.
Sundqvist M, Christenson K, Wekell P, Björnsdottir H, Dahlstrand Rudin A, Sanchez Klose FP, Kallinich T, Welin A, Björkman L, Bylund J, Karlsson-Bengtsson A, Berg S. Sundqvist M, et al. Among authors: sanchez klose fp. Front Immunol. 2023 Oct 26;14:1233101. doi: 10.3389/fimmu.2023.1233101. eCollection 2023. Front Immunol. 2023. PMID: 37954595 Free PMC article.
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.