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An autoinflammatory syndrome with compound heterozygous and / gene mutations successfully treated with tocilizumab.

作者信息

Lee Jeanie, Bizzocchi Lilian, Jain Ruchi, Tagoe Clement E

机构信息

Department of Medicine, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY.

Department of Rheumatology, CoxHealth, Springfield, MO, USA.

出版信息

Rheumatol Adv Pract. 2022 May 9;6(2):rkac035. doi: 10.1093/rap/rkac035. eCollection 2022.

DOI:10.1093/rap/rkac035
PMID:35591901
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9113507/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/476c/9113507/d9a82ce5b060/rkac035f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/476c/9113507/d9a82ce5b060/rkac035f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/476c/9113507/d9a82ce5b060/rkac035f1.jpg

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Current Therapeutic Options for the Main Monogenic Autoinflammatory Diseases and PFAPA Syndrome: Evidence-Based Approach and Proposal of a Practical Guide.主要单基因自身炎症性疾病和 PFAPA 综合征的当前治疗选择：循证方法和实用指南建议。
Front Immunol. 2020 Jun 3;11:865. doi: 10.3389/fimmu.2020.00865. eCollection 2020.
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Autoinflammatory disease with focus on NOD2-associated disease in the era of genomic medicine.
基因组医学时代的自身炎症性疾病，重点关注 NOD2 相关疾病。
Autoimmunity. 2019 Mar;52(2):48-56. doi: 10.1080/08916934.2019.1613382. Epub 2019 May 13.
4
A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade.一例在第四个十年出现广泛淋巴结病和复杂杂合基因型的家族性地中海热病例。
Case Rep Rheumatol. 2018 Apr 1;2018:9670801. doi: 10.1155/2018/9670801. eCollection 2018.
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The risk of familial Mediterranean fever in MEFV heterozygotes: a statistical approach.MEFV 杂合子中家族性地中海热的风险：一种统计学方法。
PLoS One. 2013 Jul 3;8(7):e68431. doi: 10.1371/journal.pone.0068431. Print 2013.
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Hereditary autoinflammatory syndromes: a Brazilian multicenter study.遗传性自体炎症综合征：巴西多中心研究。
J Clin Immunol. 2012 Oct;32(5):922-32. doi: 10.1007/s10875-012-9688-x. Epub 2012 May 8.
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