AUTHOR=Lunz Macedo Ana Catarina , Santisteban Lores Lazara Elena , Albuquerque José Antonio Tavares , Duarte Nilo José Coelho , Romano Paschoalina , Ebner Persio Almeida Rezende , Rezende Vinicius Marcondes , Silva Clovis A. , Andrade Luís Eduardo Coelho , Vasconcelos Dewton Moraes , Isaac Lourdes TITLE=A rare association between factor H deficiency and lupus: Case report and experimental treatment with curcumin JOURNAL=Frontiers in Pediatrics VOLUME=10 YEAR=2022 URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.1039291 DOI=10.3389/fped.2022.1039291 ISSN=2296-2360 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 > 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.