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A&R: Haploinsufficiency of PSMD12 leads to proteasome dysfunction and subclinical autoinflammation

 Last Update: 2022-08-16
 Source: Internet
 Author: User

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OBJECTIVE : Proteasome-associated autoinflammatory syndrome (PRAAS)is clinically characterized by recurrent fever, neutrophilic skin disease, lipodystrophy, joint contractures, and developmental del.

Objective : The clinical features of proteasome-associated autoinflammatory syndrome (PRAAS) are recurrent fever, neutrophilic skin disease, lipodystrophy, joint contractures and developmental dela.

Methods : Whole-exome sequencing was performed on family members with rash, congenital uveitis, and developmental dela.

Methods Whole-exome sequencing was performed on family members with rash, congenital uveitis, and developmental dela.

As a result , a novel PSMD12 PSMD12 truncating variant .

Conclusions These findings suggest that, in addition to neurodevelopmental disorders, PSMD12 haploinsufficiency contributes to a range of inflammatory featur.

Source: Yan,.
, Zhang,.
, Lee, PY, Tao,.
, Wang,.
, Wang,.
, Zhou,.
and Dong,.
(2022), Haploinsufficiency of PSMD12 Causes Proteasome Dysfunction and Subclinical Autoinflammati.
Arthritis Rheumatol, 74: 1083-109 https://d.
org/11002/a.
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