P02-016 - A novel PSMB8 mutation causing candle syndrome
نویسندگان
چکیده
Introduction Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a newly described autoinflammatory disease, which had been recently reported in 9 patients. It is characterized by onset during the first year of life of recurrent fevers, purpuric skin lesions, arthralgia, progressive lipodystrophy, hypochromic or normocytic anemia, delayed physical development and increased levels of acute phase reactants.
منابع مشابه
P02-009 - Candle syndrome: expanding spectrum
Introduction CANDLE syndrome is an exceptional inflammatory condition starting within the first months of life, and comprising elevated fever, panniculitis with lipoatrophy, purplish and swollen eyelids, arthralgia, and developmental retardation. Most patients carry homozygous mutations in the PSMB8 gene that impair the assembly of the immunoproteasome (iP) and lead to interferon g deregulation...
متن کاملPReS-FINAL-2202: A novel PSMB8 mutation associated with CANDLE syndrome
Introduction Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a newly described autoinflammatory disease, which had been recently reported in 9 patients. It is characterized by onset during the first year of life of recurrent fevers, purpuric skin lesions, arthralgia, progressive lipodystrophy, hypochromic or normocytic anemia, delayed ph...
متن کاملAdditive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
Autosomal recessive mutations in proteasome subunit β 8 (PSMB8), which encodes the inducible proteasome subunit β5i, cause the immune-dysregulatory disease chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE), which is classified as a proteasome-associated autoinflammatory syndrome (PRAAS). Here, we identified 8 mutations in 4 proteasome genes, PSMA3 (en...
متن کاملInvolvement of the IFN-gamma pathway in a patient with candle syndrome carrying a novel variant of PSMB8 gene
Methods A 10 year-old young girl presented at 10 months of age with recurrent fever, hepato-splenomegaly and nodular erythematous skin lesions of trunk and limbs; subsequently she progressively developed lypodistrophy, arthralgia, arthritis and edema of eyelids. Skin biopsy showed typical features of lobular panniculitis. Laboratory tests showed persistent elevated acute phase reactants with in...
متن کاملPW02-024 - A case of candle syndrome treated with thalidomide
Case Report A Japanese girl presented with fever, annular erythematous plagues and elevation of hepatocellular enzyme at 2 months of age. She had deformed ears, a broad saddlelike nose and periorbital edema. At 16 years of age, she had lipodystrophy of the face and upper limbs, a protuberant abdomen, and severe fat deposition into the peritoneal and the pleural cavity. Painful nodular erythema,...
متن کامل