Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)

Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)

Mutations in genes coding for proteasome subunits and/or proteasome assembly helpers typically cause recurring autoinflammation referred to as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) or proteasome-associated autoinflammatory syndrome (PRAAS). Pa...

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Bibliographic Details
Main Authors: Jonas Johannes Papendorf, Frédéric Ebstein, Sara Alehashemi, Daniela Gerent Petry Piotto, Anna Kozlova, Maria Teresa Terreri, Anna Shcherbina, Andre Rastegar, Marta Rodrigues, Renan Pereira, Sophia Park, Bin Lin, Kat Uss, Sophie Möller, Ana Flávia da Silva Pina, Flavio Sztajnbok, Sofia Torreggiani, Julie Niemela, Jennifer Stoddard, Sergio D. Rosenzweig, Andrew J. Oler, Colton McNinch, Marietta M. de Guzman, Adriana Fonseca, Nicole Micheloni, Melissa Mariti Fraga, Sandro Félix Perazzio, Raphaela Goldbach-Mansky, Adriana A. de Jesus, Elke Krüger
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-08-01
Series:Frontiers in Immunology
Subjects:
proteasomopathy
proteasome associated autoinflammatory syndrome
type I interferon
interferonopathy
PSMB8
PSMB10
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2023.1190104/full

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