Research advances in proteasome-associated autoinflammatory syndrome
XU Li
TANG Xue-mei
Abstract：With the insights into autoinflammatory diseases,the mutations in proteasome cause a syndrome that has previously been referred to as Nakajo-Nishimura syndrome (NNS),Japanese autoinflammatory syndrome with lipodystrophy (JASL),joint contractures,muscle atrophy,microcytic anemia,and panniculitis-induced childhood-onset lipodystrophy (JMP) syndrome,or chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE).These disease spectrum is referred to as proteasome-associated autoinflammatory syndrome (PRAAS).In contrast to what occurs in many currently known interleukin-1 mediated autoinflammatory diseases,mutations in proteasome lead to proteasome dysfunction and chronic type Ⅰ IFN production,and which have no response to IL-1 inhibition treatment.The JAK1/JAK2 inhibitor which blocks IFN signaling may be effective in patients with PRAAS.
Keywords：autoinflammatory syndromeproteasometype Ⅰ interferon
Publication Date：2018-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 33-36 )