Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency
- Author(s)
- Spaan, AN; Boisson, B; Masters, SL;
- Details
- Publication Year 2025-05-05,Volume 222,Issue #5,Page e20241047
- Journal Title
- Journal of Experimental Medicine
- Abstract
- The last decades have brought a rapid expansion of the number of primary disorders related to the polyubiquitination pathways in humans. Most of these disorders manifest with two seemingly contradictory clinical phenotypes: autoinflammation, immunodeficiency, or both. We provide an overview of the molecular pathogenesis of these disorders, and their role in inflammation and infection. By focusing on data from human genetic diseases, we explore the complexities of the polyubiquitination pathways and the corresponding clinical phenotypes of their deficiencies. We offer a road map for the discovery of new genetic etiologies. By considering the triggers that induce inflammation, we propose autoinflammation and immunodeficiency as continuous clinical phenotypes.
- Publisher
- Rockefeller University Press
- Keywords
- Humans; *Ubiquitination; *Inflammation/genetics/metabolism/immunology/pathology; *Immunologic Deficiency Syndromes/genetics/immunology/metabolism; Animals
- Research Division(s)
- Inflammation
- PubMed ID
- 40232244
- Publisher's Version
- https://doi.org/10.1084/jem.20241047
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2025-12-05 09:30:40
Last Modified: 2025-12-05 09:30:58