Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Das CANDLE-Syndrome ist eine seltene proteasomen-assoziierte autoinflammatorische Erkrankung mit progressiver Lipodystrophie. Sie maniferstiert sich neonatal oder im Kleinkindesalter mit rekurrentem Fieber, geschwollenen lividen Augenlidern, Arthralgien, Purpura und verzögerter körperlicher Entwicklung.
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Brehm A et. al. (2015) Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
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Tanaka M et. al. (1993) Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome.
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Torrelo A et. al. (2010) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome.
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Garg A et. al. (2010) An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.
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Agarwal AK et. al. (2010) PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.
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Arima K et. al. (2011) Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.
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Kitamura A et. al. (2011) A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans.
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Oyanagi K et. al. (1987) An autopsy case of a syndrome with muscular atrophy, decreased subcutaneous fat, skin eruption and hyper gamma-globulinemia: peculiar vascular changes and muscle fiber degeneration.
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Kitano Y et. al. (1985) A syndrome with nodular erythema, elongated and thickened fingers, and emaciation.
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Yamada S et. al. (1984) [Sibling cases with lipodystrophic skin change, muscular atrophy, recurrent skin eruptions, and deformities and contractures of the joints. A possible new clinical entity].
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