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LetterCase Report

OTULIN-Related Autoinflammatory Syndrome With a Novel Mutation Treated With Tumor Necrosis Factor Inhibitor Therapy: A Rare Case Report

Vildan Güngörer, ılknur Külhaş Çelik, Hasibe Artaç and Banu Çelikel Acar
The Journal of Rheumatology May 2025, jrheum.2024-1141; DOI: https://doi.org/10.3899/jrheum.2024-1141
Vildan Güngörer
V. Güngörer, MD, Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara City Hospital, Ankara, Turkey.
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ılknur Külhaş Çelik
ı.K. Çelik, MD, Division of Pediatric Allergy and Immunology, Department of Pediatrics, Selcuk University Faculty of Medicine, Konya, Turkey.
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Hasibe Artaç
H. Artaç, MD, Division of Pediatric Allergy and Immunology, Department of Pediatrics, Selcuk University Faculty of Medicine, Konya, Turkey.
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Banu Çelikel Acar
B. Çelikel Acar, MD, Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara City Hospital, Ankara, Turkey.
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Abstract

Ubiquitylation, a posttranslational modification, is one of the key mechanisms regulating cellular homeostasis in the innate immune system. OTULIN is a deubiquitinase that prevents the accumulation of linear ubiquitin chains in the cell. OTULIN deficiency causes OTULIN-related autoinflammatory syndrome (ORAS), also known as otulipenia, an autosomal recessive disease characterized by uncontrolled inflammation.

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The Journal of Rheumatology: 53 (8)
The Journal of Rheumatology
Vol. 53, Issue 8
1 Aug 2026
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OTULIN-Related Autoinflammatory Syndrome With a Novel Mutation Treated With Tumor Necrosis Factor Inhibitor Therapy: A Rare Case Report
Vildan Güngörer, ılknur Külhaş Çelik, Hasibe Artaç, Banu Çelikel Acar
The Journal of Rheumatology May 2025, jrheum.2024-1141; DOI: 10.3899/jrheum.2024-1141

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OTULIN-Related Autoinflammatory Syndrome With a Novel Mutation Treated With Tumor Necrosis Factor Inhibitor Therapy: A Rare Case Report
Vildan Güngörer, ılknur Külhaş Çelik, Hasibe Artaç, Banu Çelikel Acar
The Journal of Rheumatology May 2025, jrheum.2024-1141; DOI: 10.3899/jrheum.2024-1141
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