A rare association between factor H deficiency and lupus: Case report and experimental treatment with curcumin
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 demonstra...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-11-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2022.1039291/full |
| _version_ | 1811334413372358656 |
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| author | Ana Catarina Lunz Macedo 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 |
| author_facet | Ana Catarina Lunz Macedo 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 |
| author_sort | Ana Catarina Lunz Macedo |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T17:07:34Z |
| format | Article |
| id | doaj.art-e72be8f6f908463bab86f43cc085c8c5 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-13T17:07:34Z |
| publishDate | 2022-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-e72be8f6f908463bab86f43cc085c8c52022-12-22T02:38:25ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602022-11-011010.3389/fped.2022.10392911039291A rare association between factor H deficiency and lupus: Case report and experimental treatment with curcuminAna Catarina Lunz Macedo0Ana Catarina Lunz Macedo1Lazara Elena Santisteban Lores2José Antonio Tavares Albuquerque3Nilo José Coelho Duarte4Paschoalina Romano5Persio Almeida Rezende Ebner6Vinicius Marcondes Rezende7Clovis A. Silva8Luís Eduardo Coelho Andrade9Dewton Moraes Vasconcelos10Lourdes Isaac11Pediatric Nephrology Unit, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, São Paulo, BrazilDepartment of Immunology, Institute of Biomedical Sciences, Universidade de São Paulo, São Paulo, BrazilDepartment of Immunology, Institute of Biomedical Sciences, Universidade de São Paulo, São Paulo, BrazilDepartment of Immunology, Institute of Biomedical Sciences, Universidade de São Paulo, São Paulo, BrazilLaboratory of Medical Investigation – LIM 03- Central Laboratory Division, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, BrazilLaboratory of Medical Investigation – LIM 03- Central Laboratory Division, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, BrazilLaboratory of Medical Investigation – LIM 03- Central Laboratory Division, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, BrazilLaboratory of Medical Investigation – LIM 03- Central Laboratory Division, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, BrazilPediatric Rheumatology Unit, Hospital das Clínicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, BrazilRheumatology Division, Escola Paulista de Medicina, UNIFESP, São Paulo, BrazilLaboratory of MedicalInvestigation in Dermatology and Immunodeficiencies – LIM 56, Institto de Medicina Tropical, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, BrazilDepartment of Immunology, Institute of Biomedical Sciences, Universidade de São Paulo, São Paulo, BrazilFactor 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.https://www.frontiersin.org/articles/10.3389/fped.2022.1039291/fullFH deficiencylupuscurcuminexperimental treatmenttranslational medicinecase report |
| spellingShingle | Ana Catarina Lunz Macedo 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 A rare association between factor H deficiency and lupus: Case report and experimental treatment with curcumin Frontiers in Pediatrics FH deficiency lupus curcumin experimental treatment translational medicine case report |
| title | A rare association between factor H deficiency and lupus: Case report and experimental treatment with curcumin |
| title_full | A rare association between factor H deficiency and lupus: Case report and experimental treatment with curcumin |
| title_fullStr | A rare association between factor H deficiency and lupus: Case report and experimental treatment with curcumin |
| title_full_unstemmed | A rare association between factor H deficiency and lupus: Case report and experimental treatment with curcumin |
| title_short | A rare association between factor H deficiency and lupus: Case report and experimental treatment with curcumin |
| title_sort | rare association between factor h deficiency and lupus case report and experimental treatment with curcumin |
| topic | FH deficiency lupus curcumin experimental treatment translational medicine case report |
| url | https://www.frontiersin.org/articles/10.3389/fped.2022.1039291/full |
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