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1
Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation.伪装成GATA2缺乏症的2型腺苷脱氨酶缺乏症：造血干细胞移植成功
J Allergy Clin Immunol. 2016 Aug;138(2):628-630.e2. doi: 10.1016/j.jaci.2016.03.016. Epub 2016 Apr 6.
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
[Treatment of deficiency of adenosine deaminase 2 caused by CECR1 mutation with myeloablative hematopoietic stem cell transplantation].[采用清髓性造血干细胞移植治疗由CECR1突变引起的腺苷脱氨酶2缺乏症]
Zhonghua Er Ke Za Zhi. 2020 Jun 2;58(6):509-511. doi: 10.3760/cma.j.cn112140-20191021-00659.
4
A misleading case of deficiency of adenosine deaminase 2 (DADA2): the magnifying glass of the scientific knowledge drives the tailored medicine in real life.腺苷脱氨酶2缺乏症（DADA2）的一个误导性病例：科学知识的放大镜推动现实生活中的精准医疗。
Clin Exp Rheumatol. 2018 Nov-Dec;36(6 Suppl 115):146. Epub 2018 Jul 19.
5
Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency.纯合子剪接型ADA2基因突变导致ADA - 2缺乏症。
J Clin Immunol. 2019 Nov;39(8):842-845. doi: 10.1007/s10875-019-00697-2. Epub 2019 Oct 15.
6
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.造血细胞移植治愈腺苷脱氨酶 2 缺乏症：30 例患者报告。
J Clin Immunol. 2021 Oct;41(7):1633-1647. doi: 10.1007/s10875-021-01098-0. Epub 2021 Jul 29.
7
Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.ADA2 缺陷症中作为疾病机制的紊乱 N-连接糖基化。
J Allergy Clin Immunol. 2018 Oct;142(4):1363-1365.e8. doi: 10.1016/j.jaci.2018.05.038. Epub 2018 Jun 21.
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Deficiency of adenosine deaminase 2: a case series revealing clinical manifestations, genotypes and treatment outcomes from Turkey.腺苷脱氨酶2缺乏症：来自土耳其的一系列病例揭示临床表现、基因型和治疗结果
Rheumatology (Oxford). 2020 Jan 1;59(1):254-256. doi: 10.1093/rheumatology/kez260.
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Outcomes in two Japanese adenosine deaminase-deficiency patients treated by stem cell gene therapy with no cytoreductive conditioning.两名接受无细胞减灭预处理的干细胞基因治疗的日本腺苷脱氨酶缺乏症患者的结果。
J Clin Immunol. 2015 May;35(4):384-98. doi: 10.1007/s10875-015-0157-1. Epub 2015 Apr 15.
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Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2).未控制的爱泼斯坦-巴尔病毒作为腺苷脱氨酶2缺乏症（DADA2）的非典型表现。
J Clin Immunol. 2021 Apr;41(3):680-683. doi: 10.1007/s10875-020-00940-1. Epub 2021 Jan 4.

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1
Human ADA2 Deficiency: Ten Years Later.人类 ADA2 缺乏症：十年后。
Curr Allergy Asthma Rep. 2024 Sep;24(9):477-484. doi: 10.1007/s11882-024-01163-9. Epub 2024 Jul 6.
2
Vasculitis and vasculopathy associated with inborn errors of immunity: an overview.与遗传性免疫缺陷相关的血管炎和血管病变：概述
Front Pediatr. 2024 Jan 31;11:1258301. doi: 10.3389/fped.2023.1258301. eCollection 2023.
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How I diagnose myeloid neoplasms with germline predisposition.我如何诊断具有种系倾向的髓系肿瘤。
Am J Clin Pathol. 2023 Oct 3;160(4):352-364. doi: 10.1093/ajcp/aqad075.
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The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort.腺苷脱氨酶 2 缺乏症的谱：60 例患者队列的观察性分析。
Front Immunol. 2022 Jan 10;12:811473. doi: 10.3389/fimmu.2021.811473. eCollection 2021.
5
Novel Adenosine Deaminase 2 (ADA2) Mutations Associated With Hematological Manifestations.新型腺苷脱氨酶 2（ADA2）突变与血液学表现相关。
J Investig Med High Impact Case Rep. 2021 Jan-Dec;9:23247096211056770. doi: 10.1177/23247096211056770.
6
Case Report: Deficiency of Adenosine Deaminase 2 Presenting With Overlapping Features of Autoimmune Lymphoproliferative Syndrome and Bone Marrow Failure.病例报告：腺苷脱氨酶 2 缺乏症表现为自身免疫性淋巴增生综合征和骨髓衰竭的重叠特征。
Front Immunol. 2021 Oct 14;12:754029. doi: 10.3389/fimmu.2021.754029. eCollection 2021.
7
Donor source and post-transplantation cyclophosphamide influence outcome in allogeneic stem cell transplantation for GATA2 deficiency.供者来源和移植后环磷酰胺对 GATA2 缺陷的异基因干细胞移植的结果有影响。
Br J Haematol. 2022 Jan;196(1):169-178. doi: 10.1111/bjh.17840. Epub 2021 Sep 27.
8
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.造血细胞移植治愈腺苷脱氨酶 2 缺乏症：30 例患者报告。
J Clin Immunol. 2021 Oct;41(7):1633-1647. doi: 10.1007/s10875-021-01098-0. Epub 2021 Jul 29.
9
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.
10
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
Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa.皮肤结节性多动脉炎中 ADA2 缺乏的皮肤表现。
JAMA Dermatol. 2015 Nov;151(11):1230-4. doi: 10.1001/jamadermatol.2015.1635.
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
GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.GATA2 缺陷相关的骨髓疾病不同于特发性再生障碍性贫血。
Blood. 2015 Jan 1;125(1):56-70. doi: 10.1182/blood-2014-06-580340. Epub 2014 Oct 30.
4
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.
5
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.
6
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.
7
High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.GATA2 突变在从轻症慢性中性粒细胞减少症进展为单克隆巨噬细胞增生症、骨髓增生异常和急性髓系白血病的患者中高频发生。
Blood. 2013 Jan 31;121(5):822-9. doi: 10.1182/blood-2012-08-447367. Epub 2012 Dec 6.
8
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.GATA2 基因突变与常染色体显性遗传和散发性单核细胞减少症和分枝杆菌感染（MonoMAC）综合征有关。
Blood. 2011 Sep 8;118(10):2653-5. doi: 10.1182/blood-2011-05-356352. Epub 2011 Jun 13.
9
Adenosine deaminase in patients with primary immunodeficiency syndromes: the analysis of serum ADA1 and ADA2 activities.原发性免疫缺陷综合征患者的腺苷脱氨酶：血清 ADA1 和 ADA2 活性分析。
Clin Biochem. 2009 Sep;42(13-14):1438-43. doi: 10.1016/j.clinbiochem.2008.10.019. Epub 2008 Nov 8.

Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation.

作者信息

Hsu Amy P, West Robert R, Calvo Katherine R, Cuellar-Rodriguez Jennifer, Parta Mark, Kelly Susan J, Ganson Nancy J, Hershfield Michael S, Holland Steven M, Hickstein Dennis D

机构信息

Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.

Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Md.

出版信息

J Allergy Clin Immunol. 2016 Aug;138(2):628-630.e2. doi: 10.1016/j.jaci.2016.03.016. Epub 2016 Apr 6.

DOI:10.1016/j.jaci.2016.03.016
PMID:27130863
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4975951/
Abstract
摘要