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Article

Contribution of the Unfolded Protein Response (UPR) to the Pathogenesis of Proteasome-Associated Autoinflammatory Syndromes (PRAAS).

Frontiers in immunology - 1 Jan 2019

Ebstein Frédéric, Poli Harlowe María Cecilia, Studencka-Turski Maja, Krüger Elke

Abstract excerpt

Type I interferonopathies cover a phenotypically heterogeneous group of rare genetic diseases including the recently described proteasome-associated autoinflammatory syndromes (PRAAS). By definition, PRAAS are caused by inherited and/or de novo loss-of-function mutations in genes encoding proteasome subunits such as PSMB8, PSMB9, PSMB7, PSMA3, or proteasome assembly factors including POMP and PSMG2, respectively....

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Identifiers

PMID: 31827472
DOI: 10.3389/fimmu.2019.02756
PMCID: PMC6890838

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