Article

Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants

2025-06-26

Abstract excerpt

Immunoproteasomes, essential for MHC class I antigen presentation, differ from standard proteasomes by incorporating the catalytic subunits PSMB9 (β1i), PSMB10 (β2i), and PSMB8 (β5i). Proteasome-associated autoinflammatory syndromes (PRAAS) are type I interferonopathies resulting from impaired proteasome function. Here, we describe two individuals carrying monoallelic de novo variants in PSMB8 , both presenting wi...

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Literature Corpus work: 50486757-f857-545b-a9c3-942b27e1e776
DOI: 10.1101/2025.06.25.25330124

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