OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition
Publication date
2024-01
Authors
Arts, Rob J W
van der Linden, Tristan J
van der Made, Caspar I
Hendriks, Marianne M C
van der Heijden, Wouter A
de Mast, Quirijn
Schuurs-Hoeijmakers, Janneke H M
Simons, Annet
Spaan, András N
Mulders-Manders, Catharina M
Editors
Advisors
Supervisors
Document Type
Article
Metadata
Show full item recordCollections
License
taverne
Abstract
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.
Keywords
Fasciitis, Female, Haploinsufficiency, Humans, Inflammation/genetics, Necrosis, Ubiquitination, Taverne, Case Reports, Journal Article
Citation
Arts, R J W, van der Linden, T J, van der Made, C I, Hendriks, M M C, van der Heijden, W A, de Mast, Q, Schuurs-Hoeijmakers, J H M, Simons, A, Spaan, A N, Mulders-Manders, C M & van de Veerdonk, F L 2024, 'OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition', Journal of Clinical Immunology, vol. 44, no. 1, 10. https://doi.org/10.1007/s10875-023-01630-4