Extreme Phenotypic Variation in Siblings with Identical Homozygous Mutations Causing ADA2 Deficiency: A Case Series.
作者信息
Aksu Muhammed D, Özen Seza, Aksu Tekin, Gürel Ayşe, Çetinkaya Arda, Ünal Şule
机构信息
Hacettepe University Faculty of Medicine, Ankara, Türkiye
Hacettepe University Cancer Institute, Department of Basic Oncology, Ankara, Türkiye
出版信息
Turk J Haematol. 2025 Feb 28;42(1):61-64. doi: 10.4274/tjh.galenos.2025.2024.0373. Epub 2025 Jan 7.
Abstract
摘要
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本文引用的文献
1
Deficiency of Adenosine Deaminase 2.腺苷脱氨酶 2 缺乏症。
Turk J Haematol. 2024 Aug 28;41(3):133-140. doi: 10.4274/tjh.galenos.2024.2024.0265. Epub 2024 Aug 9.
2
Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment.DADA2 相关疾病谱的扩展：表型、遗传学、发病机制和治疗的综述。
Clin Rheumatol. 2021 Oct;40(10):3883-3896. doi: 10.1007/s10067-021-05711-w. Epub 2021 Mar 31.
3
Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2).腺苷脱氨酶 2 缺乏症（DADA2）的疾病表型的基因型和功能相关性。
J Allergy Clin Immunol. 2020 Jun;145(6):1664-1672.e10. doi: 10.1016/j.jaci.2019.12.908. Epub 2020 Jan 13.
4
A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2.一种具有多种表型的单基因疾病：腺苷脱氨酶 2 缺乏症。
J Rheumatol. 2020 Jan;47(1):117-125. doi: 10.3899/jrheum.181384. Epub 2019 May 1.
5
ADA2 deficiency: Clonal lymphoproliferation in a subset of patients.腺苷脱氨酶2缺乏症：部分患者中的克隆性淋巴细胞增殖
J Allergy Clin Immunol. 2018 Apr;141(4):1534-1537.e8. doi: 10.1016/j.jaci.2018.01.012. Epub 2018 Jan 31.
6
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.
7
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.
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.
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