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Eur J Hum Genet. 2018 Nov;26(11):1563-1565. doi: 10.1038/s41431-018-0240-1. Epub 2018 Sep 11.
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A homozygote novel L451W mutation in CECR1 gene causes deficiency of adenosine deaminase 2 in a pediatric patient representing with chronic lymphoproliferation and cytopenia.CECR1基因中的一种纯合子新型L451W突变导致一名表现为慢性淋巴细胞增殖和血细胞减少的儿科患者腺苷脱氨酶2缺乏。
Pediatr Hematol Oncol. 2019 Sep;36(6):376-381. doi: 10.1080/08880018.2019.1621973. Epub 2019 Sep 14.

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A Narrative Review of the Neurological Manifestations of Human Adenosine Deaminase 2 Deficiency.人类腺苷脱氨酶 2 缺乏症的神经表现的叙述性综述。
J Clin Immunol. 2023 Nov;43(8):1916-1926. doi: 10.1007/s10875-023-01555-y. Epub 2023 Aug 7.
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The Many Faces of a Monogenic Autoinflammatory Disease: Adenosine Deaminase 2 Deficiency.单基因自身炎症性疾病的多面性：腺苷脱氨酶 2 缺乏症。
Curr Rheumatol Rep. 2020 Aug 26;22(10):64. doi: 10.1007/s11926-020-00944-1.

本文引用的文献

1
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.
2
Hypomorphic RAG1 defect in a child presented with pulmonary hemorrhage and digital necrosis.一名儿童出现低表达RAG1缺陷，表现为肺出血和手指坏死。
Clin Immunol. 2018 Feb;187:92-94. doi: 10.1016/j.clim.2017.10.010. Epub 2017 Nov 7.
3
Adenosine Deaminase 2 Deficiency: More Than Monogenic Vasculitis.腺苷脱氨酶2缺乏症：不止是单基因血管炎。
Isr Med Assoc J. 2017 Jul;19(7):435-437.
4
Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood.对 181 例抗体缺陷患者进行腺苷脱氨酶 2 缺乏症筛查为成人疾病提供新视角。
Arthritis Rheumatol. 2017 Aug;69(8):1689-1700. doi: 10.1002/art.40147. Epub 2017 Jul 5.
5
Refractory Pure Red Cell Aplasia Manifesting as Deficiency of Adenosine Deaminase 2.表现为腺苷脱氨酶2缺乏的难治性纯红细胞再生障碍性贫血
J Pediatr Hematol Oncol. 2017 Jul;39(5):e293-e296. doi: 10.1097/MPH.0000000000000805.
6
Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.扩展腺苷脱氨酶2缺乏症的临床表型
J Pediatr. 2016 Oct;177:316-320. doi: 10.1016/j.jpeds.2016.06.058. Epub 2016 Aug 8.
7
A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations.一组强调治疗及基因型-表型相关性的腺苷脱氨酶2缺乏症患者病例系列
J Rheumatol. 2015 Aug;42(8):1532-4. doi: 10.3899/jrheum.150024.
8
Mutant ADA2 in vasculopathies.血管病变中的突变型ADA2
N Engl J Med. 2014 Jul 31;371(5):478. doi: 10.1056/NEJMc1405506.
9
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.
10
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.

Genetic testing for DADA2: How can we avoid missing patients?

作者信息

Sönmez Hafize Emine, Batu Ezgi Deniz, Taşkıran Ekim Z, Alikaşifoğlu Mehmet, Bilginer Yelda, Özen Seza

机构信息

Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

出版信息

Eur J Hum Genet. 2018 Nov;26(11):1563-1565. doi: 10.1038/s41431-018-0240-1. Epub 2018 Sep 11.

DOI:10.1038/s41431-018-0240-1
PMID:30206352
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6189089/
Abstract
摘要