Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Proteasom-assoziiertes Autoinflammations-Syndrom 1

Das proteasom-assoziiertes Autoinflammations-Syndrom 1 ist eine autosomal rezessive oder digenische Erkrankung, die durch Mutationen im PSMB8-Gen ausgelöst wird.

Gliederung

Proteasom-assoziiertes Autoinflammations-Syndrom
PSMA3
Proteasom-assoziiertes Autoinflammations-Syndrom 1
PSMB8
Proteasom-assoziiertes Autoinflammations-Syndrom 2
Proteasom-assoziiertes Autoinflammations-Syndrom 3
Proteasom-assoziiertes Autoinflammations-Syndrom 4

Referenzen:

1.

Liu Y et. al. (2012) Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.

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2.

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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3.

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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4.

Torrelo A et. al. (2010) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome.

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5.

Garg A et. al. (2010) An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.

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6.

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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7.

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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8.

Kitamura A et. al. (2011) A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans.

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9.

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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10.

Kitano Y et. al. (1985) A syndrome with nodular erythema, elongated and thickened fingers, and emaciation.

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11.

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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Update: 8. Mai 2019