OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition.

Autor: Arts RJW; Department of Internal Medicine, Radboud Institute of Molecular Life Sciences (RIMLS) and Radboudumc Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands. rob.jw.arts@radboudumc.nl.; Department of Medicine (463), Radboud University Nijmegen Medical Center, Geert Grooteplein Zuid 8, 6525 GA, Nijmegen, Netherlands. rob.jw.arts@radboudumc.nl., van der Linden TJ; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX, Utrecht, Netherlands., van der Made CI; Department of Internal Medicine, Radboud Institute of Molecular Life Sciences (RIMLS) and Radboudumc Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Hendriks MMC; Department of Internal Medicine, Radboud Institute of Molecular Life Sciences (RIMLS) and Radboudumc Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands.; Department of Medicine (463), Radboud University Nijmegen Medical Center, Geert Grooteplein Zuid 8, 6525 GA, Nijmegen, Netherlands., van der Heijden WA; Department of Internal Medicine, Radboud Institute of Molecular Life Sciences (RIMLS) and Radboudumc Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands., de Mast Q; Department of Internal Medicine, Radboud Institute of Molecular Life Sciences (RIMLS) and Radboudumc Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands.; Department of Medicine (463), Radboud University Nijmegen Medical Center, Geert Grooteplein Zuid 8, 6525 GA, Nijmegen, Netherlands., Schuurs-Hoeijmakers JHM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Simons A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Spaan AN; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX, Utrecht, Netherlands., Mulders-Manders CM; Department of Internal Medicine, Radboud Institute of Molecular Life Sciences (RIMLS) and Radboudumc Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands.; Department of Medicine (463), Radboud University Nijmegen Medical Center, Geert Grooteplein Zuid 8, 6525 GA, Nijmegen, Netherlands., van de Veerdonk FL; Department of Internal Medicine, Radboud Institute of Molecular Life Sciences (RIMLS) and Radboudumc Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands.; Department of Medicine (463), Radboud University Nijmegen Medical Center, Geert Grooteplein Zuid 8, 6525 GA, Nijmegen, Netherlands.
Jazyk: angličtina
Zdroj: Journal of clinical immunology [J Clin Immunol] 2023 Dec 22; Vol. 44 (1), pp. 10. Date of Electronic Publication: 2023 Dec 22.
DOI: 10.1007/s10875-023-01630-4
Abstrakt: Here, we describe an adult female with severe fasciitis and skin necrosis who carried a private, predicted deleterious missense mutation in OTULIN in heterozygosity. OTULIN is a cellular regulator of deubiquitination that has been shown to play a key role in intrinsic immunity against staphylococcal α-toxin. The patient was treated with broad-spectrum antibiotics, and multiple surgical explorations were conducted without clinical response. Since autoinflammation was the predominant clinical feature, TNF inhibition was started with a good clinical response. We show that excessive inflammation in OTULIN haploinsufficiency can be effectively treated by TNF inhibition.
(© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
Databáze: MEDLINE
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