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

Rob J W Arts; Tristan J van der Linden; Caspar I van der Made; Marianne M C Hendriks; Wouter A van der Heijden; Quirijn de Mast; Janneke H M Schuurs-Hoeijmakers; Annet Simons; András N Spaan; Catharina M Mulders-Manders; Frank L van de Veerdonk

doi:10.1007/s10875-023-01630-4

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

Rob J W Arts^*, Tristan J van der Linden, Caspar I van der Made, Marianne M C Hendriks, Wouter A van der Heijden, Quirijn de Mast, Janneke H M Schuurs-Hoeijmakers, Annet Simons, András N Spaan, Catharina M Mulders-Manders, Frank L van de Veerdonk

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Article number	10
Number of pages	5
Journal	Journal of Clinical Immunology
Volume	44
Issue number	1
DOIs	https://doi.org/10.1007/s10875-023-01630-4
Publication status	Published - Jan 2024

Keywords

Fasciitis
Female
Haploinsufficiency
Humans
Inflammation/genetics
Necrosis
Ubiquitination

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10.1007/s10875-023-01630-4

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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, 44(1), Article 10. https://doi.org/10.1007/s10875-023-01630-4

@article{9cf71ffdd72c4cf780543dabe053c484,

title = "OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition",

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",

author = "Arts, {Rob J W} and {van der Linden}, {Tristan J} and {van der Made}, {Caspar I} and Hendriks, {Marianne M C} and {van der Heijden}, {Wouter A} and {de Mast}, Quirijn and Schuurs-Hoeijmakers, {Janneke H M} and Annet Simons and Spaan, {Andr{\'a}s N} and Mulders-Manders, {Catharina M} and {van de Veerdonk}, {Frank L}",

note = "Publisher Copyright: {\textcopyright} 2023, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.",

year = "2024",

month = jan,

doi = "10.1007/s10875-023-01630-4",

language = "English",

volume = "44",

journal = "Journal of Clinical Immunology",

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Arts, RJW, van der Linden, TJ, van der Made, CI, Hendriks, MMC, van der Heijden, WA, de Mast, Q, Schuurs-Hoeijmakers, JHM, Simons, A, Spaan, AN, Mulders-Manders, CM & van de Veerdonk, FL 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

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T1 - OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition

AU - Arts, Rob J W

AU - van der Linden, Tristan J

AU - van der Made, Caspar I

AU - Hendriks, Marianne M C

AU - van der Heijden, Wouter A

AU - de Mast, Quirijn

AU - Schuurs-Hoeijmakers, Janneke H M

AU - Simons, Annet

AU - Spaan, András N

AU - Mulders-Manders, Catharina M

AU - van de Veerdonk, Frank L

PY - 2024/1

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N2 - 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.

AB - 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.

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KW - Female

KW - Haploinsufficiency

KW - Humans

KW - Inflammation/genetics

KW - Necrosis

KW - Ubiquitination

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DO - 10.1007/s10875-023-01630-4

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C2 - 38129331

SN - 0271-9142

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JO - Journal of Clinical Immunology

JF - Journal of Clinical Immunology

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ER -

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

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