Proteasome disorders and inborn errors of immunity.
JAK inhibitors
PRAAS
autoinflammatory diseases
interferonopathy
proteasome
Journal
Immunological reviews
ISSN: 1600-065X
Titre abrégé: Immunol Rev
Pays: England
ID NLM: 7702118
Informations de publication
Date de publication:
Mar 2024
Mar 2024
Historique:
revised:
27
11
2023
received:
10
10
2023
accepted:
30
11
2023
pubmed:
10
12
2023
medline:
10
12
2023
entrez:
10
12
2023
Statut:
ppublish
Résumé
Inborn errors of immunity (IEI) or primary immune deficiencies (PIDD) are caused by variants in genes encoding for molecules that are relevant to the innate or adaptive immune response. To date, defects in more than 450 different genes have been identified as causes of IEI, causing a constellation of heterogeneous clinical manifestations ranging from increased susceptibility to infection, to autoimmunity or autoinflammation. IEI that are mainly characterized by autoinflammation are broadly classified according to the inflammatory pathway that they predominantly perturb. Among autoinflammatory IEI are those characterized by the transcriptional upregulation of type I interferon genes and are referred to as interferonopathies. Within the spectrum of interferonopathies, genetic defects that affect the proteasome have been described to cause autoinflammatory disease and represent a growing area of investigation. This review is focused on describing the clinical, genetic, and molecular aspects of IEI associated with mutations that affect the proteasome and how the study of these diseases has contributed to delineate therapeutic interventions.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
283-299Subventions
Organisme : Fondo de Financiamiento de Centros de Investigación en Áreas Prioritarias
ID : ATE220061
Organisme : Fondo Nacional de Desarrollo Científico y Tecnológico
ID : 1221802
Organisme : Jeffrey Modell Foundation
Informations de copyright
© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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