对白介素-1受体拮抗剂缺乏反应，而阿那白滞素对此有反应。
Deficiency of interleukin-1 receptor antagonist responsive to anakinra.
作者信息
Schnellbacher Charlotte, Ciocca Giovanna, Menendez Roxanna, Aksentijevich Ivona, Goldbach-Mansky Raphaela, Duarte Ana M, Rivas-Chacon Rafael
机构信息
Division of Pediatrics, Miami Children's Hospital, Miami, FloridaDivision of Dermatology, Miami Children's Hospital, Miami, FloridaDivision of Dermatology, Columbia Hospital/Nova Southeastern University, West Palm Beach, FloridaNational Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MarylandDivision of Rheumatology, Miami Children's Hospital, Miami, Florida.
出版信息
Pediatr Dermatol. 2013 Nov-Dec;30(6):758-60. doi: 10.1111/j.1525-1470.2012.01725.x. Epub 2012 Apr 4.
Abstract
We describe a 3-month-old infant who presented to our institution with interleukin (IL)-1 receptor antagonist deficiency (DIRA), which consists of neutrophilic pustular dermatosis, periostitis, aseptic multifocal osteomyelitis, and persistently high acute-phase reactants. Skin findings promptly improved upon initiation of treatment with anakinra (recombinant human IL-1 receptor antagonist), and the bony lesions and systemic inflammation resolved with continued therapy.
摘要
我们描述了一名3个月大的婴儿，他因白细胞介素（IL）-1受体拮抗剂缺乏症（DIRA）前来我院就诊，该病症包括嗜中性脓疱性皮肤病、骨膜炎、无菌性多灶性骨髓炎以及持续升高的急性期反应物。使用阿那白滞素（重组人IL-1受体拮抗剂）治疗后，皮肤症状迅速改善，继续治疗后骨病变和全身炎症得以消退。
相似文献
1
Deficiency of interleukin-1 receptor antagonist responsive to anakinra.对白介素-1受体拮抗剂缺乏反应，而阿那白滞素对此有反应。
Pediatr Dermatol. 2013 Nov-Dec;30(6):758-60. doi: 10.1111/j.1525-1470.2012.01725.x. Epub 2012 Apr 4.
2
Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN.白细胞介素-1受体拮抗剂缺乏症（DIRA）：首例印度患者报告及影响IL1RN的新型缺失突变
J Clin Immunol. 2017 Jul;37(5):445-451. doi: 10.1007/s10875-017-0399-1. Epub 2017 May 15.
3
The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist.首例报道的因白细胞介素-1受体拮抗剂缺乏导致的复合杂合性IL1RN突变病例。
Arthritis Rheum. 2011 Dec;63(12):4018-22. doi: 10.1002/art.30565.
4
A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA).巴西一例白细胞介素-1 受体拮抗剂（DIRA）缺乏症的新型复合杂合突变病例报告。
Pediatr Rheumatol Online J. 2020 Aug 20;18(1):67. doi: 10.1186/s12969-020-00454-5.
5
First clinical description of an infant with interleukin-36-receptor antagonist deficiency successfully treated with anakinra.首例白细胞介素-36 受体拮抗剂缺乏症婴儿的临床描述，成功接受阿那白滞素治疗。
Pediatrics. 2013 Oct;132(4):e1043-7. doi: 10.1542/peds.2012-3935. Epub 2013 Sep 9.
6
Interleukin 1 receptor antagonist deficiency presenting as infantile pustulosis mimicking infantile pustular psoriasis.表现为类似婴儿脓疱型银屑病的婴儿脓疱病的白细胞介素1受体拮抗剂缺乏症。
Arch Dermatol. 2012 Jun;148(6):747-52. doi: 10.1001/archdermatol.2011.3208.
7
Phenotypic analysis of pyrin-associated autoinflammation with neutrophilic dermatosis patients during treatment.在治疗期间，伴有中性粒细胞皮肤病的pyrin 相关自身炎症患者的表型分析。
Rheumatology (Oxford). 2021 Nov 3;60(11):5436-5446. doi: 10.1093/rheumatology/keab221.
8
Chronic recurrent multifocal osteomyelitis and deficiency of interleukin-1-receptor antagonist.慢性复发性多灶性骨髓炎与白细胞介素-1受体拮抗剂缺乏症
Pediatr Infect Dis J. 2013 Jan;32(1):94. doi: 10.1097/INF.0b013e3182700cc1.
9
Expression of interleukin-1 alpha in amicrobial pustulosis of the skin folds with complete response to anakinra.
J Am Acad Dermatol. 2014 Aug;71(2):e53-6. doi: 10.1016/j.jaad.2013.12.041.
10
DIRA, DITRA, and new insights into pathways of skin inflammation: what's in a name?DIRA、DITRA与皮肤炎症通路的新见解：名称有何含义？
Arch Dermatol. 2012 Mar;148(3):381-4. doi: 10.1001/archdermatol.2011.3014.
引用本文的文献
1
Deficiency of interleukin-1 receptor antagonist: A systematic review.白细胞介素-1受体拮抗剂缺乏：一项系统评价。
Arch Rheumatol. 2024 Dec 12;39(4):566-578. doi: 10.46497/ArchRheumatol.2024.10882. eCollection 2024 Dec.
2
Majeed syndrome: first description in a patient of central-European ancestry.马吉德综合征：首例中欧血统患者的病例描述
Rheumatology (Oxford). 2025 May 1;64(5):3069-3073. doi: 10.1093/rheumatology/keae480.
3
Recombinant production of interleukin-1 receptor antagonist in fusion to albumin binding domain with potential affinity to human serum albumin.与对人血清白蛋白具有潜在亲和力的白蛋白结合结构域融合的白细胞介素-1受体拮抗剂的重组生产。
Res Pharm Sci. 2024 Jul 1;19(3):356-365. doi: 10.4103/RPS.RPS_41_23. eCollection 2024 Jun.
4
Analysis of Anakinra Therapy for the Deficiency of Interleukin-1 Receptor Antagonist through Clinical Evidence.通过临床证据分析阿那白滞素治疗白细胞介素-1受体拮抗剂缺乏症的疗效
J Clin Med. 2024 Feb 10;13(4):1026. doi: 10.3390/jcm13041026.
5
Accuracy of generative artificial intelligence models in differential diagnoses of familial Mediterranean fever and deficiency of Interleukin-1 receptor antagonist.生成式人工智能模型在家族性地中海热和白细胞介素-1受体拮抗剂缺乏症鉴别诊断中的准确性
J Transl Autoimmun. 2023 Oct 14;7:100213. doi: 10.1016/j.jtauto.2023.100213. eCollection 2023 Dec.
6
Inflammasomes and the IL-1 Family in Bone Homeostasis and Disease.炎性小体和白细胞介素-1 家族在骨稳态和疾病中的作用
Curr Osteoporos Rep. 2022 Jun;20(3):170-185. doi: 10.1007/s11914-022-00729-8. Epub 2022 May 14.
7
Promising Natural Products in New Drug Design, Development, and Therapy for Skin Disorders: An Overview of Scientific Evidence and Understanding Their Mechanism of Action.有前景的天然产物在新药设计、开发和皮肤疾病治疗中的应用：对科学证据的概述及对其作用机制的理解。
Drug Des Devel Ther. 2022 Jan 6;16:23-66. doi: 10.2147/DDDT.S326332. eCollection 2022.
8
The Immunological Impact of IL-1 Family Cytokines on the Epidermal Barrier.IL-1 家族细胞因子对表皮屏障的免疫影响。
Front Immunol. 2021 Dec 23;12:808012. doi: 10.3389/fimmu.2021.808012. eCollection 2021.
9
Generalized Pustular Psoriasis: Divergence of Innate and Adaptive Immunity.泛发性脓疱型银屑病：先天性免疫与适应性免疫的分歧
Int J Mol Sci. 2021 Aug 22;22(16):9048. doi: 10.3390/ijms22169048.
10
Off-label use of anti-IL-1 drugs in rheumatic diseases.抗白细胞介素-1 药物在风湿性疾病中的超适应证使用。
Int J Immunopathol Pharmacol. 2021 Jan-Dec;35:20587384211006584. doi: 10.1177/20587384211006584.
本文引用的文献
1
Autoinflammatory disease reloaded: a clinical perspective.自身炎症性疾病再探讨：临床视角。
Cell. 2010 Mar 19;140(6):784-90. doi: 10.1016/j.cell.2010.03.002.
2
An autoinflammatory disease due to homozygous deletion of the IL1RN locus.一种由于IL1RN基因座纯合缺失所致的自身炎症性疾病。
N Engl J Med. 2009 Jun 4;360(23):2438-44. doi: 10.1056/NEJMoa0809568.
3
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.一种伴有白细胞介素-1受体拮抗剂缺乏的自身炎症性疾病。
N Engl J Med. 2009 Jun 4;360(23):2426-37. doi: 10.1056/NEJMoa0807865.
4
Cytokine imbalance in the pathogenesis of rheumatoid arthritis: the role of interleukin-1 receptor antagonist.细胞因子失衡在类风湿关节炎发病机制中的作用：白细胞介素-1受体拮抗剂的作用
Semin Arthritis Rheum. 2001 Apr;30(5 Suppl 2):1-6. doi: 10.1053/sarh.2001.23693.
5
Biologic basis for interleukin-1 in disease.疾病中白细胞介素-1的生物学基础。
Blood. 1996 Mar 15;87(6):2095-147.
Zotero 插件