Academic Journal
Combined therapy with IL-1 and JAK inhibitors in a patient with the NLRP1 gene mutation and a complex inflammatory phenotype
| Title: | Combined therapy with IL-1 and JAK inhibitors in a patient with the NLRP1 gene mutation and a complex inflammatory phenotype |
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| Authors: | Vasily Burlakov, MD, Anna Kozlova, PhD, Dmitry Pershin, PhD, Yulia Rodina, MD, PhD, Igor Khamin, MD, Galina Novichkova, MD, PhD, Ivona Aksentijevich, PhD, Anna Shcherbina, MD, PhD |
| Source: | Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 3, Pp 100251- (2024) |
| Publisher Information: | Elsevier, 2024. |
| Publication Year: | 2024 |
| Collection: | LCC:Immunologic diseases. Allergy |
| Subject Terms: | Autoinflammatory disorder, dyskeratosis, NLRP1, inborn error of immunity, IL1RA-inhibitor, anakinra, Immunologic diseases. Allergy, RC581-607 |
| More Details: | A patient presented with overlapping clinical and laboratory features of 2 rare autoinflammatory diseases, NLRP1-associated autoinflammation with arthritis and dyskeratosis and familial multiple self-healing palmoplantar carcinoma. Her severe inflammatory attack was treated with the IL-1 receptor-α inhibitor anakinra along with the Janus kinase inhibitor ruxolitinib. Three years into the treatment, the patient’s inflammatory symptoms are completely in remission. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 2772-8293 |
| Relation: | http://www.sciencedirect.com/science/article/pii/S277282932400047X; https://doaj.org/toc/2772-8293 |
| DOI: | 10.1016/j.jacig.2024.100251 |
| Access URL: | https://doaj.org/article/210227899b844bb195a274154294107a |
| Accession Number: | edsdoj.210227899b844bb195a274154294107a |
| Database: | Directory of Open Access Journals |
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