Monogenic interferonopathies: Phenotypic and genotypic findings of CANDLE syndrome and its overlap with C1q deficient SLE.
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Rheumatic Diseases"
DOI: 10.1111/1756-185x.13228
Abstract: To report the clinical and genetic features of the first cases of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome in an Arab population and to compare them with patients of C1q… read more here.
Keywords: c1q deficient; interferonopathies phenotypic; genotypic findings; phenotypic genotypic ... See more keywords
CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation
Sign Up to like & getrecommendations! Published in 2017 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2017.00927
Abstract: CANDLE syndrome (Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature) is a rare, genetic autoinflammatory disease due to abnormal functioning of the multicatalytic system proteasome–immunoproteasome. Several recessive mutations in different protein subunits of this… read more here.
Keywords: syndrome paradigm; related autoinflammation; paradigm proteasome; candle syndrome ... See more keywords