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Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra.

作者信息

Roy Noémi B A, Zaal Ahmad I, Hall Georgina, Wilkinson Nick, Proven Melanie, McGowan Simon, Hipkiss Ria, Buckle Veronica, Kavirayani Akhila, Babbs Christian

机构信息

Department of Haematology, Oxford University Hospitals NHS Foundation Trust.

Oxford BRC Haematology Theme, University of Oxford.

出版信息

Rheumatology (Oxford). 2020 Feb 1;59(2):448-451. doi: 10.1093/rheumatology/kez317.

DOI:10.1093/rheumatology/kez317
PMID:31377798
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7571481/
Abstract
摘要

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Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra.马吉德综合征:一种新型突变的描述以及对双膦酸盐和阿那白滞素阻断IL-1的治疗反应。
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2
Novel Majeed Syndrome-Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis.新型 Majeed 综合征相关 LPIN2 突变将骨炎症与炎症 M2 巨噬细胞和破骨细胞生成加速联系起来。
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3
Efficacy of anti-IL-1 treatment in Majeed syndrome.Majeed 综合征的抗 IL-1 治疗效果。
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Phenotypic Variability in Majeed Syndrome.马吉德综合征的表型变异性
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Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report.患者表现为马杰德综合征(Majeed syndrome),反复发作性发热和严重中性粒细胞减少,存在 LPIN2 复合杂合致病性变异:病例报告。
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Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).LPIN2基因的纯合突变是慢性复发性多灶性骨髓炎和先天性红细胞生成异常性贫血综合征(马吉德综合征)的病因。
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Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review.

本文引用的文献

1
Lipin-2 regulates NLRP3 inflammasome by affecting P2X7 receptor activation.脂联素-2通过影响P2X7受体激活来调节NLRP3炎性小体。
J Exp Med. 2017 Feb;214(2):511-528. doi: 10.1084/jem.20161452. Epub 2016 Dec 28.
2
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.一种新型的33基因靶向重测序检测板可为罕见遗传性贫血提供准确的临床级诊断,并改善患者管理。
Br J Haematol. 2016 Oct;175(2):318-330. doi: 10.1111/bjh.14221. Epub 2016 Jul 19.
3
Phenotypic Variability in Majeed Syndrome.
白介素-1 介导的单基因系统性自身炎症性疾病的病理生理学、临床表现和当前治疗方法:文献综述。
Pediatr Rheumatol Online J. 2022 Oct 17;20(1):90. doi: 10.1186/s12969-022-00728-0.
4
Chronic Nonbacterial Osteomyelitis in Children.儿童慢性非细菌性骨髓炎
Children (Basel). 2021 Jun 25;8(7):551. doi: 10.3390/children8070551.
5
Chronic nonbacterial osteomyelitis (CNO) and chronic recurrent multifocal osteomyelitis (CRMO).慢性非细菌性骨髓炎(CNO)和慢性复发性多灶性骨髓炎(CRMO)。
J Transl Autoimmun. 2021 Mar 20;4:100095. doi: 10.1016/j.jtauto.2021.100095. eCollection 2021.
6
Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features.马吉德综合征:临床、遗传和免疫学特征的综述。
Biomolecules. 2021 Feb 28;11(3):367. doi: 10.3390/biom11030367.
7
Chronic non-bacterial osteomyelitis and autoinflammatory bone diseases.慢性非细菌性骨髓炎和自身炎症性骨病。
Clin Immunol. 2020 Jul;216:108458. doi: 10.1016/j.clim.2020.108458. Epub 2020 May 7.
8
Radiographic overlap of recurrent Caffey disease and chronic recurrent multifocal osteomyelitis (CRMO) with considerations of molecular origins.复发型卡斐氏病与慢性复发性多灶性骨髓炎的影像学重叠,并考虑其分子起源。
Pediatr Radiol. 2020 May;50(5):618-627. doi: 10.1007/s00247-019-04590-3. Epub 2019 Dec 23.
9
Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report.患者表现为马杰德综合征(Majeed syndrome),反复发作性发热和严重中性粒细胞减少,存在 LPIN2 复合杂合致病性变异:病例报告。
BMC Med Genet. 2019 Nov 14;20(1):182. doi: 10.1186/s12881-019-0919-3.
马吉德综合征的表型变异性
J Rheumatol. 2016 Jun;43(6):1258-9. doi: 10.3899/jrheum.151193.
4
Efficacy of anti-IL-1 treatment in Majeed syndrome.Majeed 综合征的抗 IL-1 治疗效果。
Ann Rheum Dis. 2013 Mar;72(3):410-3. doi: 10.1136/annrheumdis-2012-201818. Epub 2012 Oct 20.
5
A conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin-1 and lipin-2.一个保守的丝氨酸残基是磷脂酸磷酸酶活性所必需的,但不是脂联素-1和脂联素-2的转录共激活因子功能所必需的。
J Biol Chem. 2009 Oct 23;284(43):29968-78. doi: 10.1074/jbc.M109.023663. Epub 2009 Aug 28.
6
A splice site mutation confirms the role of LPIN2 in Majeed syndrome.一个剪接位点突变证实了LPIN2在马吉德综合征中的作用。
Arthritis Rheum. 2007 Mar;56(3):960-4. doi: 10.1002/art.22431.
7
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).LPIN2基因的纯合突变是慢性复发性多灶性骨髓炎和先天性红细胞生成异常性贫血综合征(马吉德综合征)的病因。
J Med Genet. 2005 Jul;42(7):551-7. doi: 10.1136/jmg.2005.030759.
8
Chronic non-bacterial osteomyelitis in children.儿童慢性非细菌性骨髓炎
Ann Rheum Dis. 2005 Feb;64(2):279-85. doi: 10.1136/ard.2004.023838.