| Autor: |
Ana Catarina Lunz Macedo, Lazara Elena Santisteban Lores, José Antonio Tavares Albuquerque, Nilo José Coelho Duarte, Paschoalina Romano, Persio Almeida Rezende Ebner, Vinicius Marcondes Rezende, Clovis A. Silva, Luís Eduardo Coelho Andrade, Dewton Moraes Vasconcelos, Lourdes Isaac |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Frontiers in Pediatrics, Vol 10 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2296-2360 |
| DOI: |
10.3389/fped.2022.1039291 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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