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Journal of Clinical Immunology

Erschienen in:

01.03.2024 | Review

The Complexity of Being A20: From Biological Functions to Genetic Associations

verfasst von: Urekha Karri, Magdalena Harasimowicz, Manuel Carpio Tumba, Daniella M. Schwartz

Erschienen in: Journal of Clinical Immunology | Ausgabe 3/2024

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Abstract

A20, encoded by TNFAIP3, is a critical negative regulator of immune activation. A20 is a ubiquitin editing enzyme with multiple domains, each of which mediates or stabilizes a key ubiquitin modification. A20 targets diverse proteins that are involved in pleiotropic immunologic pathways. The complexity of A20-mediated immunomodulation is illustrated by the varied effects of A20 deletion in different cell types and disease models. Clinically, the importance of A20 is highlighted by its extensive associations with human disease. A20 germline variants are associated with a wide range of inflammatory diseases, while somatic mutations promote development of B cell lymphomas. More recently, the discovery of A20 haploinsufficiency (HA20) has provided real world evidence for the role of A20 in immune cell function. Originally described as an autosomal dominant form of Behcet’s disease, HA20 is now considered a complex inborn error of immunity with a broad spectrum of immunologic and clinical phenotypes.

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Titel: The Complexity of Being A20: From Biological Functions to Genetic Associations
verfasst von: Urekha Karri
Magdalena Harasimowicz
Manuel Carpio Tumba
Daniella M. Schwartz
Publikationsdatum: 01.03.2024
Verlag: Springer US
Erschienen in: Journal of Clinical Immunology / Ausgabe 3/2024
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-024-01681-1

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Gibt es eine Wende bei den bioresorbierbaren Gefäßstützen?

Vorsicht, erhöhte Blutungsgefahr nach PCI!

Darf man die Behandlung eines Neonazis ablehnen?

Update Innere Medizin