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Article

Haploinsufficiency of PSMD12 Causes Proteasome Dysfunction and Subclinical Autoinflammation.

Arthritis & rheumatology (Hoboken, N.J.) - 1 Jun 2022

Yan Kai, Zhang Jiahui, Lee Pui Y, Tao Panfeng, Wang Jun, Wang Shihao, Zhou Qing, Dong Minyue

Abstract excerpt

OBJECTIVE: Proteasome-associated autoinflammatory syndrome (PRAAS) is caused by mutations affecting components of the proteasome and activation of the type I interferon (IFN) pathway. This study was undertaken to investigate the pathogenic mechanisms of a newly recognized type of PRAAS caused by PSMD12 haploinsufficiency. METHODS: Whole-exome sequencing was performed in members of a family with skin rash,...

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Identifiers

PMID: 35080150
DOI: 10.1002/art.42070
PMCID: PMC9321778

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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