Proteasome disorders and inborn errors of immunity

Poli Harlowe, María Cecilia

Publication:
Proteasome disorders and inborn errors of immunity

dc.contributor.author	Poli Harlowe, María Cecilia
dc.date.accessioned	2024-05-30T20:50:29Z
dc.date.available	2024-05-30T20:50:29Z
dc.date.issued	2023
dc.description.abstract	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.
dc.description.version	Aceptada
dc.identifier.citation	Poli MC. Proteasome disorders and inborn errors of immunity. Immunol Rev. 2024 Mar;322(1):283-299. doi: 10.1111/imr.13299
dc.identifier.doi	https://doi.org/10.1111/imr.13299
dc.identifier.uri	https://hdl.handle.net/11447/8974
dc.language.iso	en
dc.subject	JAK inhibitors
dc.subject	PRAAS
dc.subject	Autoinflammatory diseases
dc.subject	Interferonopathy
dc.subject	Proteasome
dc.title	Proteasome disorders and inborn errors of immunity
dc.type	Article
dcterms.accessRights	Acceso Abierto
dcterms.source	Immunological reviews
dspace.entity.type	Publication
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