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• W4308333219 abstract "Factor H (FH) is one of the most important regulatory proteins of the alternative pathway of the complement system. FH deficiency is a rare condition that causes unregulated C3 consumption, leading to an increased susceptibility to infections and glomerulopathies. Our previous studies have demonstrated a FH deficient patient carrying a c.452G &gt; A, p .R127H FH mutation which leads to a misfolded protein and its retention in the endoplasmic reticulum. In his cultured fibroblasts, FH-delayed secretion was partially rescued when treated with curcumin, and once secreted, exhibited normal regulatory function. Here, we report a childhood-onset systemic lupus erythematosus (cSLE) in this FH deficient patient and the results of experimental treatment with curcumin aiming to rescue FH secretion and regulatory activity." @default.
• W4308333219 created "2022-11-11" @default.
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• W4308333219 date "2022-11-04" @default.
• W4308333219 modified "2023-10-14" @default.
• W4308333219 title "A rare association between factor H deficiency and lupus: Case report and experimental treatment with curcumin" @default.
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• W4308333219 doi "https://doi.org/10.3389/fped.2022.1039291" @default.
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