The Complexity of Being A20: From Biological Functions to Genetic Associations.
J Clin Immunol
; 44(3): 76, 2024 Mar 07.
Article
en En
| MEDLINE
| ID: mdl-38451381
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.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Síndrome de Behçet
/
Proteína 3 Inducida por el Factor de Necrosis Tumoral alfa
Límite:
Humans
Idioma:
En
Revista:
J Clin Immunol
Año:
2024
Tipo del documento:
Article
País de afiliación:
Estados Unidos