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Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis.

作者信息

Poswar Fabiano de Oliveira, da Fonseca Raymundo Mesko Tomkowski, de Albuquerque Leonardo Cordenonzi Pedroso, Zhou Qing, Jardim Laura Bannach, Monte Thais Lampert, Aksentijevich Ivona, Saute Jonas Alex Morales

机构信息

Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 2350, Porto Alegre, Zip Code 90.035-903, Brazil.

Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

出版信息

J Neurol. 2016 Apr;263(4):818-20. doi: 10.1007/s00415-016-8070-y. Epub 2016 Feb 25.

DOI:10.1007/s00415-016-8070-y
PMID:26914925
Abstract
摘要

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本文引用的文献

1
Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency.不明原因的早发性腔隙性卒中与炎症性皮肤病变：考虑腺苷脱氨酶2缺乏症。
Neurology. 2015 May 19;84(20):2092-3. doi: 10.1212/WNL.0000000000001581. Epub 2015 Apr 17.
2
Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency.造血干细胞移植可挽救腺苷脱氨酶2缺乏症患者的免疫表型并预防血管病变。
J Allergy Clin Immunol. 2015 Jan;135(1):283-7.e5. doi: 10.1016/j.jaci.2014.10.010. Epub 2014 Nov 25.
3
Mutations in CECR1 associated with a neutrophil signature in peripheral blood.
血管病变、免疫缺陷与骨髓衰竭：由腺苷脱氨酶2缺乏引起的罕见综合征
Front Pediatr. 2018 Oct 18;6:282. doi: 10.3389/fped.2018.00282. eCollection 2018.
4
Warts and DADA2: a Mere Coincidence?疣与DADA2：纯属巧合？
J Clin Immunol. 2018 Nov;38(8):836-843. doi: 10.1007/s10875-018-0565-0. Epub 2018 Nov 1.
5
Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.腺苷脱氨酶 2 缺乏症（DADA2）：表型、遗传学、发病机制和治疗的最新进展。
J Clin Immunol. 2018 Jul;38(5):569-578. doi: 10.1007/s10875-018-0525-8. Epub 2018 Jun 27.
6
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.腺苷脱氨酶 2 缺乏症（DADA2）的基因诊断决策树：法国参考中心的经验。
Eur J Hum Genet. 2018 Jul;26(7):960-971. doi: 10.1038/s41431-018-0130-6. Epub 2018 Apr 23.
7
Hematologic Manifestations of Deficiency of Adenosine Deaminase 2 (DADA2) and Response to Tumor Necrosis Factor Inhibition in DADA2-Associated Bone Marrow Failure.腺苷脱氨酶2缺乏症（DADA2）的血液学表现及DADA2相关骨髓衰竭对肿瘤坏死因子抑制的反应
J Clin Immunol. 2018 Feb;38(2):166-173. doi: 10.1007/s10875-018-0480-4. Epub 2018 Feb 6.
8
Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes.单基因自身炎症性综合征中的血管炎和血管炎样表现。
Rheumatol Int. 2018 Jan;38(1):13-24. doi: 10.1007/s00296-017-3839-6. Epub 2017 Oct 14.
9
Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders.腺苷脱氨酶 2 缺乏症（DADA2）：一种结节性多动脉炎的遗传性病因，也是其他系统性风湿性疾病的类似病症。
Curr Rheumatol Rep. 2017 Oct 5;19(11):70. doi: 10.1007/s11926-017-0699-8.
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Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency.ADA2 缺陷症三例死亡和五例存活病例的临床、影像学和基因特征。
Rheumatol Int. 2018 Jan;38(1):129-136. doi: 10.1007/s00296-017-3740-3. Epub 2017 May 17.
与外周血中性粒细胞特征相关的CECR1突变。
Pediatr Rheumatol Online J. 2014 Sep 24;12:44. doi: 10.1186/1546-0096-12-44. eCollection 2014.
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New players driving inflammation in monogenic autoinflammatory diseases.新的致病因素驱动单基因自身炎症性疾病的炎症反应。
Nat Rev Rheumatol. 2015 Jan;11(1):11-20. doi: 10.1038/nrrheum.2014.158. Epub 2014 Sep 23.
5
Mutant ADA2 in vasculopathies.血管病变中的突变型ADA2
N Engl J Med. 2014 Jul 31;371(5):480. doi: 10.1056/NEJMc1405506.
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Mutant ADA2 in vasculopathies.血管病变中的突变型ADA2
N Engl J Med. 2014 Jul 31;371(5):478-80. doi: 10.1056/NEJMc1405506.
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N Engl J Med. 2014 Mar 6;370(10):921-31. doi: 10.1056/NEJMoa1307362. Epub 2014 Feb 19.
8
Early-onset stroke and vasculopathy associated with mutations in ADA2.早发性卒中和与 ADA2 突变相关的血管病变。
N Engl J Med. 2014 Mar 6;370(10):911-20. doi: 10.1056/NEJMoa1307361. Epub 2014 Feb 19.