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Deficiency of adenosine deaminase 2: a case series revealing clinical manifestations, genotypes and treatment outcomes from Turkey.

作者信息

Kisla Ekinci Rabia Miray, Balci Sibel, Hershfield Michael, Bisgin Atil, Dogruel Dilek, Altintas Derya Ufuk, Yilmaz Mustafa

机构信息

Department of Pediatric Rheumatology, Cukurova University Faculty of Medicine, Adana, Turkey.

Department of Medicine and Biochemistry, Duke University School of Medicine, Durham, NC, USA.

出版信息

Rheumatology (Oxford). 2020 Jan 1;59(1):254-256. doi: 10.1093/rheumatology/kez260.

DOI:10.1093/rheumatology/kez260
PMID:31292637
Abstract
摘要

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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
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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。
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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。
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引用本文的文献

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Deficiency of adenosine deaminase 2 as an unrecognized cause of early-onset stroke and cranial nerve palsy.腺苷脱氨酶2缺乏作为早发性中风和颅神经麻痹的一种未被认识的病因
North Clin Istanb. 2023 Aug 2;10(4):411-417. doi: 10.14744/nci.2022.45380. eCollection 2023.
2
A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review.广泛表型的脱氨酶 2 缺乏症（DADA2）：系统文献回顾。
Orphanet J Rare Dis. 2023 May 13;18(1):117. doi: 10.1186/s13023-023-02721-6.
3
Diagnosis and management of adenosine deaminase 2 deficiency children: the experience from China.
腺苷脱氨酶 2 缺乏症儿童的诊断与管理：来自中国的经验。
Pediatr Rheumatol Online J. 2021 Mar 23;19(1):44. doi: 10.1186/s12969-021-00535-z.
4
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.