Top

Published in:

01-02-2019

Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation

Authors: Mohammad Nabavi, Mohammad Shahrooei, Hassan Rokni-Zadeh, Jeroen Vrancken, Majid Changi-Ashtiani, Kian Darabi, Mostafa Manian, Farhad Seif, Isabelle Meyts, Arnout Voet, Leen Moens, Xavier Bossuyt

Published in: Journal of Clinical Immunology | Issue 2/2019

Excerpt

To the editor: …

Available only for authorised users

Damgaard RB, Walker JA, Marco-Casanova P, Morgan NV, Titheradge HL, Elliott PR, et al. The deubiquitinase OTULIN is an essential negative regulator of inflammation and autoimmunity. Cell. 2016;166:1215–1230.e20.CrossRefPubMedPubMedCentral

Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL, 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.CrossRefPubMedPubMedCentral

Keusekotten K, Elliott PR, Glockner L, Fiil BK, Damgaard RB, Kulathu Y, et al. OTULIN antagonizes LUBAC signaling by specifically hydrolyzing Met1-linked polyubiquitin. Cell. 2013;153:1312–26.CrossRefPubMedPubMedCentral

Boisson B, Laplantine E, Prando C, Giliani S, Israelsson E, Xu Z, et al. Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat Immunol. 2012;13:1178–86.CrossRefPubMedPubMedCentral

Boisson B, Laplantine E, Dobbs K, Cobat A, Tarantino N, Hazen M, et al. Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia. J Exp Med. 2015;212:939–51.CrossRefPubMedPubMedCentral

Title: Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation
Authors: Mohammad Nabavi
Mohammad Shahrooei
Hassan Rokni-Zadeh
Jeroen Vrancken
Majid Changi-Ashtiani
Kian Darabi
Mostafa Manian
Farhad Seif
Isabelle Meyts
Arnout Voet
Leen Moens
Xavier Bossuyt
Publication date: 01-02-2019
Publisher: Springer US
Published in: Journal of Clinical Immunology / Issue 2/2019
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-019-00599-3

ACC 2024 Congress Coverage

Heart Failure Video

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation

Excerpt

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 2/2019

Compound Heterozygous Mutations of IL2-Inducible T cell Kinase in a Swedish Patient: the Importance of Early Genetic Diagnosis

IFN-g:IL-10 Ratio: a Putative Predictive Biomarker to Discriminate HLH From Severe Viral Infections

Health-Related Quality of Life in Patients with CVID Under Different Schedules of Immunoglobulin Administration: Prospective Multicenter Study

Haploidentical Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Primary Immune Deficiency Disorders in Children: Challenges and Outcome from a Tertiary Care Center in South India

Immune Dysregulation and Disease Pathogenesis due to Activating Mutations in PIK3CD—the Goldilocks’ Effect

Severe Transitory Neonatal Neutropenia Associated with Maternal Autoimmune or Idiopathic Neutropenia

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page