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, PSMG2/PAC2 are a novel cause of CANDLE.
Publication types
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Case Reports
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Research Support, N.I.H., Intramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Chaperonins / genetics*
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Child
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Female
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Humans
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Immunologic Deficiency Syndromes / genetics*
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Interferons
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Molecular Chaperones / genetics*
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Mutation
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Proteasome Endopeptidase Complex / genetics*
Substances
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Molecular Chaperones
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PSMG2 protein, human
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Interferons
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Proteasome Endopeptidase Complex
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Chaperonins
Supplementary concepts
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chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature