Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

A, Brehm; Y, Liu; A, Sheikh; B, Marrero; E, Omoyinmi; Q, Zhou; G, Montealegre; A, Biancotto; A, Reinhardt; de Jesus A, Almeida; M, Pelletier; WL, Tsai; EF, Remmers; L, Kardava; S, Hill; H, Kim; HJ, Lachmann; A, Megarbane; JJ, Chae; J, Brady; RD, Castillo; D, Brown; AV, Casano; L, Gao; D, Chapelle; Y, Huang; D, Stone; Y, Chen; F, Sotzny; CC, Lee; DL, Kastner; A, Torrelo; A, Zlotogorski; S, Moir; M, Gadina; P, McCoy; R, Wesley; KI, Rother; PW, Hildebrand; P, Brogan; E, Krüger; I, Aksentijevich; R, Goldbach-Mansky

doi:10.1172/jci81260

Public

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

Shared by NobleBlocks on Oct 20, 2015 • 12:00 AM UTC

Authors:

Brehm A

Liu Y

Sheikh A

Abstract

Autosomal recessive mutations in proteasome subunit β 8 (PSMB8), which encodes the inducible proteasome subunit β5i, cause the immune-dysregulatory disease chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE), which is classified as a proteasome-associated au...

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