Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 30664889.
- Also identified by DOI 10.1016/j.jaci.2018.12.1012 and PMC identifier 6565382.
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Abstract
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature (CANDLE) is a rare autoinflammatory interferonopathy caused by additive loss-of-function mutations in proteasome genes. Mutations in the proteasome chaperone, <i>PSMG2</i>/PAC2 are a novel cause of CANDLE.
Medical subject headings
- Chaperonins
- Immunologic Deficiency Syndromes
- Molecular Chaperones
- Proteasome Endopeptidase Complex