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Hematologic Manifestations of Deficiency of Adenosine Deaminase 2 (DADA2) and Response to Tumor Necrosis Factor Inhibition in DADA2-Associated Bone Marrow Failure.

作者信息

Michniacki Thomas F, Hannibal Mark, Ross Charles W, Frame David G, DuVall Adam S, Khoriaty Rami, Vander Lugt Mark T, Walkovich Kelly J

机构信息

Pediatrics and Communicable Diseases, Pediatric Hematology/Oncology, University of Michigan, 1500 E. Medical Center Drive, D4202 Medical Professional Building, Ann Arbor, MI, 48109, USA.

Pediatrics - Genetics, University of Michigan, Ann Arbor, MI, USA.

出版信息

J Clin Immunol. 2018 Feb;38(2):166-173. doi: 10.1007/s10875-018-0480-4. Epub 2018 Feb 6.

DOI:10.1007/s10875-018-0480-4
PMID:29411230
Abstract
摘要

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Blood. 2017 Dec 14;130(24):2682-2688. doi: 10.1182/blood-2017-07-798660. Epub 2017 Oct 3.
2
Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation.携带新型CECR1突变的腺苷脱氨酶2缺乏症两兄弟中的具有I型干扰素特征的自身免疫表型。
Pediatr Rheumatol Online J. 2017 Aug 22;15(1):67. doi: 10.1186/s12969-017-0193-x.
3
ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.
与慢性黏膜皮肤念珠菌病相关家族中首例脐血移植治疗重型再生障碍性贫血的回顾性鉴定：病例报告、文献综述及病理生理背景
Front Immunol. 2024 Jul 24;15:1430938. doi: 10.3389/fimmu.2024.1430938. eCollection 2024.
4
ADA2 regulates inflammation and hematopoietic stem cell emergence via the AR pathway in zebrafish.ADA2 通过 AR 通路调控斑马鱼的炎症反应和造血干细胞的产生。
Commun Biol. 2024 May 22;7(1):615. doi: 10.1038/s42003-024-06286-3.
5
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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A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran.伊朗十加一腺苷脱氨酶 2 (DADA2) 缺乏症患者病例系列。
Pediatr Rheumatol Online J. 2023 Jun 13;21(1):55. doi: 10.1186/s12969-023-00838-3.
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ADA2 缺陷（DADA2）作为早发性多动脉炎和卒中的一个未被识别病因：一项多中心全国性研究。
Ann Rheum Dis. 2017 Oct;76(10):1648-1656. doi: 10.1136/annrheumdis-2016-210802. Epub 2017 May 18.
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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.
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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.
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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
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Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency.腺苷脱氨酶2缺乏症以中风为首发表现
Neuropediatrics. 2017 Apr;48(2):111-114. doi: 10.1055/s-0036-1597611. Epub 2016 Dec 26.
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