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Case ReportCase Report

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

Vildan Güngörer, İlknur Külhaş Çelik, Hasibe Artaç and Banu Çelikel Acar
The Journal of Rheumatology October 2025, 52 (10) 1061-1064; DOI: https://doi.org/10.3899/jrheum.2024-1141
Vildan Güngörer
1Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara City Hospital, Ankara;
MD
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  • ORCID record for Vildan Güngörer
  • For correspondence: vildan_61183{at}hotmail.com
İlknur Külhaş Çelik
2Division of Pediatric Allergy and Immunology, Department of Pediatrics, Selcuk University Faculty of Medicine, Konya, Türkiye.
MD
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  • ORCID record for İlknur Külhaş Çelik
Hasibe Artaç
2Division of Pediatric Allergy and Immunology, Department of Pediatrics, Selcuk University Faculty of Medicine, Konya, Türkiye.
MD
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  • ORCID record for Hasibe Artaç
Banu Çelikel Acar
1Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara City Hospital, Ankara;
MD
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REFERENCES

  1. 1.↵
    1. Damgaard RB,
    2. Walker JA,
    3. Marco-Casanova P, et al
    . The deubiquitinase OTULIN is an essential negative regulator of inflammation and autoimmunity. Cell 2016;25;166:1215-30.e20.
    OpenUrl
  2. 2.↵
    1. Zhou Q,
    2. Yu X,
    3. Demirkaya E, et al
    . Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. Proc Natl Acad Sci U S A 2016;113:10127-32.
    OpenUrlAbstract/FREE Full Text
  3. 3.
    1. Nabavi M,
    2. Shahrooei M,
    3. Rokni-Zadeh H, et al
    . Auto-inflammation in a patient with a novel homozygous OTULIN mutation. J Clin Immunol 2019;39:138-41.
    OpenUrlCrossRefPubMed
  4. 4.
    1. Damgaard RB,
    2. Elliott PR,
    3. Swatek KN, et al
    . OTULIN deficiency in ORAS causes cell type-specific LUBAC degradation, dysregulated TNF signalling and cell death. EMBO Mol Med 2019;11:e9324.
    OpenUrlAbstract/FREE Full Text
  5. 5.
    1. Zinngrebe J,
    2. Moepps B,
    3. Monecke T, et al
    . Compound heterozygous variants in OTULIN are associated with fulminant atypical late-onset ORAS. EMBO Mol Med 2022;14:e14901.
    OpenUrlPubMed
  6. 6.↵
    1. Caballero-Oteyza A,
    2. Crisponi L,
    3. Peng XP, et al
    . OTULIN-related conditions: report of a new case and review of the literature using GenIA. Clin Immunol 2024;265:110292.
    OpenUrlPubMed
  7. 7.↵
    1. Spaan AN,
    2. Neehus AL,
    3. Laplantine E, et al
    . Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin. Science 2022;376:eabm6380.
    OpenUrlPubMed
  8. 8.↵
    1. Davidson S,
    2. Shibata Y,
    3. Collard S, et al
    . Dominant negative OTULIN-related autoinflammatory syndrome. J Exp Med 2024;221:e20222171.
    OpenUrlPubMed
  9. 9.↵
    1. Takeda Y,
    2. Ueki M,
    3. Matsuhiro J, et al
    . A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome. J Exp Med 2024;221:e20231941.
    OpenUrlPubMed
  10. 10.↵
    1. Bousfiha A,
    2. Moundir A,
    3. Tangye SG, et al
    . The 2022 update of IUIS phenotypical classification for human inborn errors of immunity. J Clin Immunol 2022;42:1508-20.
    OpenUrlPubMed
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The Journal of Rheumatology: 52 (10)
The Journal of Rheumatology
Vol. 52, Issue 10
1 Oct 2025
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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, İlknur Külhaş Çelik, Hasibe Artaç, Banu Çelikel Acar
The Journal of Rheumatology Oct 2025, 52 (10) 1061-1064; 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, İlknur Külhaş Çelik, Hasibe Artaç, Banu Çelikel Acar
The Journal of Rheumatology Oct 2025, 52 (10) 1061-1064; DOI: 10.3899/jrheum.2024-1141
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