Li Lu1, Min Shen2, Dongbin Jiang1, Yanmin Li1, Xiaolong Zheng1, Yao Li1, Zhixun Li1, Leilei Zhang1, Jungen Tang1, Yanke Guo1, Shengyun Liu1, Zhaohui Zheng1, Guanmin Gao3, Quancheng Kan4. 1. Department of Rheumatology, the First Affiliated Hospital of Zhengzhou University, Higher Education Institute of Open Key Clinical Laboratory of He-nan Province, Zhengzhou, Henan 450052, China. 2. Department of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, 1 Shuaifuyuan, Dongcheng District, Beijing, NO 100730, China. 3. Department of Rheumatology, the First Affiliated Hospital of Zhengzhou University, Higher Education Institute of Open Key Clinical Laboratory of He-nan Province, Zhengzhou, Henan 450052, China. Electronic address: Guanmingao@zzu.edu.cn. 4. Department of Pharmacology, the First Affiliated Hospital of Zhengzhou University, Higher Education Institute of Open Key Clinical Laboratory of He-nan Province, Zhengzhou Henan 450052, China.
Abstract
OBJECTIVES: Blau syndrome (BS), a rare auto-inflammatory granulomatous disease, is a progressive disorder. Usually the maintenance dose of glucocorticoid may not be tapered below 15 mg per day while immunosuppressives is used. There has been some experience with biologic agents in refractory BS patients. The objective of this study is to describe the case of a BS patient benefiting from Tocilizumab, a humanized monoclonal antibody against interleukin 6 receptor. METHODS: We report the first Chinese patient with BS who was resistant to currently available therapies but had rapid quiescence after using Tocilizumab. We also conducted a systematic literature review about the current treatments of BS. RESULTS: A 13-year-old Chinese boy with BS, whose uveitis got worsened when treated with Infliximab, was well-controlled after taking Tocilizumab and prednisone was tapered off to a dose of 8mg per day. We identified 29 manuscripts providing 45 BS cases. Among these patients, 24 underwent biological treatments and 22 of them recovered. In these 29 manuscripts, the biological agents used to treat refractory BS included Etanercept, Infliximab, Adalimumab, Canakinumab and Anakinra. CONCLUSIONS: Case reports on the use of biological agents have yielded mixed results. The diversity of the symptoms may be due to functional differences in NOD2 mutations. For BS patients with fever, lymphadenopathy and hepatosplenomegaly, Tocilizumab may be a better choice.
OBJECTIVES:Blau syndrome (BS), a rare auto-inflammatory granulomatous disease, is a progressive disorder. Usually the maintenance dose of glucocorticoid may not be tapered below 15 mg per day while immunosuppressives is used. There has been some experience with biologic agents in refractory BS patients. The objective of this study is to describe the case of a BS patient benefiting from Tocilizumab, a humanized monoclonal antibody against interleukin 6 receptor. METHODS: We report the first Chinese patient with BS who was resistant to currently available therapies but had rapid quiescence after using Tocilizumab. We also conducted a systematic literature review about the current treatments of BS. RESULTS: A 13-year-old Chinese boy with BS, whose uveitis got worsened when treated with Infliximab, was well-controlled after taking Tocilizumab and prednisone was tapered off to a dose of 8mg per day. We identified 29 manuscripts providing 45 BS cases. Among these patients, 24 underwent biological treatments and 22 of them recovered. In these 29 manuscripts, the biological agents used to treat refractory BS included Etanercept, Infliximab, Adalimumab, Canakinumab and Anakinra. CONCLUSIONS: Case reports on the use of biological agents have yielded mixed results. The diversity of the symptoms may be due to functional differences in NOD2 mutations. For BS patients with fever, lymphadenopathy and hepatosplenomegaly, Tocilizumab may be a better choice.
Authors: Tejas P Joshi; Hannah Y Wang; Prazwal Athukuri; Sarah Bohac; Morgan A Farr; Darien Hinson; Justin A Kahla; Nasim Khalfe; Dylan B McBee; Rachel Stroh; Nicole Walters; Vicky Ren Journal: Am J Clin Dermatol Date: 2022-05-23 Impact factor: 6.233
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