CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and fever
Cellular therapy and transplantation(2023)
摘要
Proteasome-associated autoinflammatory syndromes (PRAAS) are rare genetic diseases which are characterized by various phenotypes and are classified as primary immunodeficiencies.PRAAS consists of 4 common syndrome variants: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome; joint contractures, muscle atrophy, hepatomegaly, splenomegaly, microcytic anemia and panniculitis-induced lipodystrophy syndrome; Nakajo-Nishimura syndrome and Japanese autoinflammatory syndrome with lipodystrophy.Symptoms include periodic fever, skin rash, partial lipomuscular atrophy, and joint contracture.We presented a case of CANDLE syndrome with homozygous mutation on exon 2 (c.274G > A) PSMB8 gene.
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关键词
candle syndrome,chronic atypical neutrophilic dermatosis,lipodystrophy
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