Variant: rs387906680 

    present in Gene: PSMB8
    present in Chromosome: 6
    Position on Chromosome: 32841671
    Alleles of this Variant: C/A;T

rs387906680 in PSMB8 gene and PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 PMID 26567544 2016 CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation.

PMID 21953331 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.

PMID 26524591 2015 Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

PMID 21881205 2011 A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans.

PMID 21852578 2011 Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.

PMID 21129723 2010 PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.