Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome (CANDLE)/Proteasome-Associated Autoinflammatory Syndromes (PRAAS)
CANDLE/PRAAS is a genetically defined Type I interferonopathy caused by recessive or digenic loss-of-function (LOF) mutations in proteasome genes PSMB8, PSMB9, PSMA3, PSMB4, and PSMG2 and dominant loss of function mutations that cause haploinsufficiency in POMP.
CANDLE/PRAAS patients present with recurrent fever, panniculitis-induced lipodystrophy, joint contractures, myositis, cytopenia, basal ganglia calcifications, and elevated acute phase reactants. Forty to 80% of patients develop systemic hypertension, metabolic syndrome, and hepatic steatosis often within the first decade of life. Primary pulmonary hypertension has been reported in two young patients.
Introduction and Background
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