Bibliographic Details
| Title: |
Novel heterozygous TREX1 mutation in a juvenile systemic lupus erythematosus patient with severe cutaneous involvement treated successfully with Jak-inhibitors: a case report |
| Authors: |
Martina Rossano, Emilio Amleto Conti, Paola Bocca, Stefano Volpi, Antonio Mastrangelo, Riccardo Cavalli, Marco Gattorno, Francesca Minoia, Giovanni Filocamo |
| Source: |
Frontiers in Immunology, Vol 14 (2023) |
| Publisher Information: |
Frontiers Media S.A., 2023. |
| Publication Year: |
2023 |
| Collection: |
LCC:Immunologic diseases. Allergy |
| Subject Terms: |
systemic lupus erythematosus, Trex1, JAK-inhibitor, baricitinib, pediatrics, case report, Immunologic diseases. Allergy, RC581-607 |
| More Details: |
Juvenile systemic lupus erythematosus (jSLE) is a complex inflammatory autoimmune disorder. In the last decades, genetic factors and activation pathways have been increasingly studied to understand their potential pathogenetic role better. Genetic and transcriptional abnormalities directly involved in the type I interferon (IFN) signaling cascade have been identified through family-based and genome-wide association studies. IFNs trigger signaling pathways that initiate gene transcription of IFN-stimulated genes through the activation of JAK1, TYK2, STAT1, and STAT2. Thus, the use of therapies that target the IFN pathway would represent a formidable advance in SLE. It is well known that JAK inhibitors have real potential for the treatment of rheumatic diseases, but their efficacy in the treatment of SLE remains to be elucidated. We report the case of a 13-year-old girl affected by jSLE, carrying a novel heterozygous missense variant on Three prime Repair EXonuclease 1 (TREX1), successfully treated with baricitinib on top of mofetil mycophenolate. The TREX1 gene plays an important role in DNA damage repair, and its mutations have been associated with an overproduction of type 1 interferon. This report underlines the role of translational research in identifying potential pathogenetic pathways in rare diseases to optimize treatment. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1664-3224 |
| Relation: |
https://www.frontiersin.org/articles/10.3389/fimmu.2023.1288675/full; https://doaj.org/toc/1664-3224 |
| DOI: |
10.3389/fimmu.2023.1288675 |
| Access URL: |
https://doaj.org/article/20d40947056e44378a6d8c93a5ecc3e6 |
| Accession Number: |
edsdoj.20d40947056e44378a6d8c93a5ecc3e6 |
| Database: |
Directory of Open Access Journals |
