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Tofacitinib effectiveness in Blau syndrome: a case series of Chinese paediatric patients
OBJECTIVE: Blau syndrome (BS), a rare, autosomal-dominant autoinflammatory syndrome, is characterized by a clinical triad of granulomatous recurrent uveitis, dermatitis, and symmetric arthritis and associated with mutations of the nucleotide-binding oligomerization domain containing 2 (NOD2) gene. A...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8594202/ https://www.ncbi.nlm.nih.gov/pubmed/34781959 http://dx.doi.org/10.1186/s12969-021-00634-x |
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author | Zhang, Song Cai, Zhe Mo, Xiaolan Zeng, Huasong |
author_facet | Zhang, Song Cai, Zhe Mo, Xiaolan Zeng, Huasong |
author_sort | Zhang, Song |
collection | PubMed |
description | OBJECTIVE: Blau syndrome (BS), a rare, autosomal-dominant autoinflammatory syndrome, is characterized by a clinical triad of granulomatous recurrent uveitis, dermatitis, and symmetric arthritis and associated with mutations of the nucleotide-binding oligomerization domain containing 2 (NOD2) gene. Aim of this study was to assess the efficacy of tofacitinib in Chinese paediatric patients with BS. METHODS: Tofacitinib was regularly administered to three BS patients (Patient 1, Patient 2, and Patient 3) at different dosages: 1.7 mg/day (0.11 mg/kg), 2.5 mg/day (0.12 mg/kg), and 2.5 mg/day (0.33 mg/kg). The clinical manifestations of the patients, magnetic resonance imaging results, serological diagnoses, therapeutic measures and outcomes of treatments are described in this report. RESULTS: The clinical characteristics and serological diagnoses of all BS patients were greatly improved after the administration of tofacitinib treatment. All patients reached clinical remission of polyarthritis and improvements in the erythrocyte sedimentation rate (ESR) and levels of C-reactive protein (CRP) and inflammatory cytokines. CONCLUSION: Tofacitinib, a Janus kinase (JAK) inhibitor, is a promising agent for BS patients who have unsatisfactory responses to corticosteroids, traditional disease-modifying antirheumatic drugs, and biological agents. |
format | Online Article Text |
id | pubmed-8594202 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-85942022021-11-16 Tofacitinib effectiveness in Blau syndrome: a case series of Chinese paediatric patients Zhang, Song Cai, Zhe Mo, Xiaolan Zeng, Huasong Pediatr Rheumatol Online J Short Report OBJECTIVE: Blau syndrome (BS), a rare, autosomal-dominant autoinflammatory syndrome, is characterized by a clinical triad of granulomatous recurrent uveitis, dermatitis, and symmetric arthritis and associated with mutations of the nucleotide-binding oligomerization domain containing 2 (NOD2) gene. Aim of this study was to assess the efficacy of tofacitinib in Chinese paediatric patients with BS. METHODS: Tofacitinib was regularly administered to three BS patients (Patient 1, Patient 2, and Patient 3) at different dosages: 1.7 mg/day (0.11 mg/kg), 2.5 mg/day (0.12 mg/kg), and 2.5 mg/day (0.33 mg/kg). The clinical manifestations of the patients, magnetic resonance imaging results, serological diagnoses, therapeutic measures and outcomes of treatments are described in this report. RESULTS: The clinical characteristics and serological diagnoses of all BS patients were greatly improved after the administration of tofacitinib treatment. All patients reached clinical remission of polyarthritis and improvements in the erythrocyte sedimentation rate (ESR) and levels of C-reactive protein (CRP) and inflammatory cytokines. CONCLUSION: Tofacitinib, a Janus kinase (JAK) inhibitor, is a promising agent for BS patients who have unsatisfactory responses to corticosteroids, traditional disease-modifying antirheumatic drugs, and biological agents. BioMed Central 2021-11-15 /pmc/articles/PMC8594202/ /pubmed/34781959 http://dx.doi.org/10.1186/s12969-021-00634-x Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Short Report Zhang, Song Cai, Zhe Mo, Xiaolan Zeng, Huasong Tofacitinib effectiveness in Blau syndrome: a case series of Chinese paediatric patients |
title | Tofacitinib effectiveness in Blau syndrome: a case series of Chinese paediatric patients |
title_full | Tofacitinib effectiveness in Blau syndrome: a case series of Chinese paediatric patients |
title_fullStr | Tofacitinib effectiveness in Blau syndrome: a case series of Chinese paediatric patients |
title_full_unstemmed | Tofacitinib effectiveness in Blau syndrome: a case series of Chinese paediatric patients |
title_short | Tofacitinib effectiveness in Blau syndrome: a case series of Chinese paediatric patients |
title_sort | tofacitinib effectiveness in blau syndrome: a case series of chinese paediatric patients |
topic | Short Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8594202/ https://www.ncbi.nlm.nih.gov/pubmed/34781959 http://dx.doi.org/10.1186/s12969-021-00634-x |
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