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ADA2 缺陷症中作为疾病机制的紊乱 N-连接糖基化。

Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.

机构信息

Division of Immunology, Boston Children's Hospital, Boston, Mass; Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Boston, Mass.

Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Boston, Mass.

出版信息

J Allergy Clin Immunol. 2018 Oct;142(4):1363-1365.e8. doi: 10.1016/j.jaci.2018.05.038. Epub 2018 Jun 21.

DOI:10.1016/j.jaci.2018.05.038
PMID:29936104
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6175612/
Abstract

Deficiency of adenosine deaminase 2 is characterized by vasculitis, early-onset strokes, immunodeficiency, and bone marrow failure. We describe a novel pathogenic mutation affecting a consensus N-linked glycosylation sequence and illustrate the essential role of glycosylation in the biology of ADA2.

摘要

腺苷脱氨酶 2 缺乏症的特征是血管炎、早发性中风、免疫缺陷和骨髓衰竭。我们描述了一个新的致病性突变，该突变影响一个共识的 N 连接糖基化序列，并说明了糖基化在 ADA2 生物学中的重要作用。

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本文引用的文献

1
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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Monogenic polyarteritis: the lesson of ADA2 deficiency.单基因性多动脉炎：ADA2缺乏症的教训。
Pediatr Rheumatol Online J. 2016 Sep 8;14(1):51. doi: 10.1186/s12969-016-0111-7.
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Analysis of protein-coding genetic variation in 60,706 humans.对60706名人类的蛋白质编码基因变异进行分析。
Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
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Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.突变的腺苷脱氨酶 2 与结节性多动脉炎血管病变。
N Engl J Med. 2014 Mar 6;370(10):921-31. doi: 10.1056/NEJMoa1307362. Epub 2014 Feb 19.
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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.
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Structural basis for the growth factor activity of human adenosine deaminase ADA2.人腺苷脱氨酶 ADA2 生长因子活性的结构基础。
J Biol Chem. 2010 Apr 16;285(16):12367-77. doi: 10.1074/jbc.M109.083527. Epub 2010 Feb 9.
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Glycosylation in cellular mechanisms of health and disease.健康与疾病细胞机制中的糖基化作用。
Cell. 2006 Sep 8;126(5):855-67. doi: 10.1016/j.cell.2006.08.019.
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Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.糖基化增加包含了一组意外庞大的致病性突变。
Nat Genet. 2005 Jul;37(7):692-700. doi: 10.1038/ng1581. Epub 2005 May 29.
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The hydroxy amino acid in an Asn-X-Ser/Thr sequon can influence N-linked core glycosylation efficiency and the level of expression of a cell surface glycoprotein.Asn-X-Ser/Thr序列中的羟基氨基酸可影响N-连接核心糖基化效率以及细胞表面糖蛋白的表达水平。
J Biol Chem. 1995 Jun 16;270(24):14756-61. doi: 10.1074/jbc.270.24.14756.