Article
LACC1 deficiency leading to juvenile arthritis and anemia.
Clinical immunology (Orlando, Fla.) - 1 Aug 2024
He Tingyan, Wang Linlin, Huang Xiaomei, Weng Ruohang, Yang Jun
Abstract excerpt
OBJECTIVE: Juvenile arthritis caused by loss-of-function LACC1 mutations is characterized by early onset of symmetric and chronic arthritis, associated with an elevation of inflammatory markers. We aimed to describe serum cytokine levels, explore the type I interferon pathway, and evaluate the efficacy of treatment in a patient presenting with polyarthritis and anemia caused by novel compound heterozygous...
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