儿童霍奇金淋巴瘤：考虑DADA2。 - Suppr

Childhood Hodgkin Lymphoma: Think DADA2.

作者信息

Alabbas Fahad, Elyamany Ghaleb, Alsharif Omar, Hershfield Michael, Meyts Isabelle

机构信息

Department of Pediatric Hematology/Oncology and Bone Marrow Transplant, Prince Sultan Military Medical City (PSMMC), Sulimaniyah RD, Riyadh, 12233, Saudi Arabia.

Prince Sultan Military Medical City (PSMMC), Riyadh, Saudi Arabia.

出版信息

J Clin Immunol. 2019 Jan;39(1):26-29. doi: 10.1007/s10875-019-0590-7. Epub 2019 Jan 14.

DOI:10.1007/s10875-019-0590-7

PMID:30644014

Abstract

摘要

相似文献

Childhood Hodgkin Lymphoma: Think DADA2.儿童霍奇金淋巴瘤：考虑DADA2。

J Clin Immunol. 2019 Jan;39(1):26-29. doi: 10.1007/s10875-019-0590-7. Epub 2019 Jan 14.

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.

Testicular ischemia in deficiency of adenosine deaminase 2 (DADA2).腺苷脱氨酶 2 缺乏症所致的睾丸缺血。

Pediatr Rheumatol Online J. 2019 Jul 10;17(1):39. doi: 10.1186/s12969-019-0334-5.

Identification of Novel Adenosine Deaminase 2 Gene Variants and Varied Clinical Phenotype in Pediatric Vasculitis.在儿科血管炎中鉴定新型腺苷脱氨酶 2 基因突变及不同的临床表型。

Arthritis Rheumatol. 2019 Oct;71(10):1747-1755. doi: 10.1002/art.40913. Epub 2019 Aug 26.

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.

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.

Genetic testing for DADA2: How can we avoid missing patients?针对DADA2的基因检测：我们如何避免漏诊患者？

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

Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Cause.腺苷脱氨酶2和免疫球蛋白M可准确鉴别不明原因的成人斯奈登综合征。

Cerebrovasc Dis. 2018;46(5-6):257-264. doi: 10.1159/000495794. Epub 2019 Jan 15.

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.

[Clinical study of gene therapy for adenosine deaminase deficiency].腺苷脱氨酶缺乏症基因治疗的临床研究

Arerugi. 1996 Jul;45(7):621-6.

引用本文的文献

Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.显性负性ADA2突变导致杂合子携带者出现ADA2缺乏症。

J Exp Med. 2025 Nov 3;222(11). doi: 10.1084/jem.20250499. Epub 2025 Aug 27.

Mimics and challenging presentations of DADA2.DADA2的模仿与具有挑战性的表现形式。

Clin Exp Immunol. 2025 Jan 21;219(1). doi: 10.1093/cei/uxaf017.

Dominant negative mutations cause ADA2 deficiency in heterozygous carriers.显性负性突变导致杂合子携带者出现ADA2缺乏症。

medRxiv. 2024 Dec 11:2024.12.09.24317629. doi: 10.1101/2024.12.09.24317629.

Early bone marrow alterations in patients with adenosine deaminase 2 deficiency across disease phenotypes and severities.腺苷脱氨酶2缺乏症患者在不同疾病表型和严重程度下的早期骨髓改变。

J Allergy Clin Immunol. 2025 Feb;155(2):616-627.e8. doi: 10.1016/j.jaci.2024.09.007. Epub 2024 Sep 14.

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.

Deficiency of adenosine deaminase 2 leading to recurrent Hodgkin lymphoma: A case report.腺苷脱氨酶2缺乏导致复发性霍奇金淋巴瘤：一例报告。

SAGE Open Med Case Rep. 2024 Jun 12;12:2050313X241260148. doi: 10.1177/2050313X241260148. eCollection 2024.

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.

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.

Allogeneic Hematopoietic Cell Transplantation for Patients With Deficiency of Adenosine Deaminase 2 (DADA2): Approaches, Obstacles and Special Considerations.同种异体造血细胞移植治疗腺苷脱氨酶 2 缺乏症（DADA2）患者：方法、障碍和特殊考虑。

Front Immunol. 2022 Jul 7;13:932385. doi: 10.3389/fimmu.2022.932385. eCollection 2022.

Lymphoproliferation in Inborn Errors of Immunity: The Eye Does Not See What the Mind Does Not Know.免疫先天缺陷中的淋巴组织增生：眼不见，心不晓。

Front Immunol. 2022 May 4;13:856601. doi: 10.3389/fimmu.2022.856601. eCollection 2022.

本文引用的文献

Warts and DADA2: a Mere Coincidence?疣与DADA2：纯属巧合？

J Clin Immunol. 2018 Nov;38(8):836-843. doi: 10.1007/s10875-018-0565-0. Epub 2018 Nov 1.

ADA2 Deficiency Mimicking Idiopathic Multicentric Castleman Disease.ADA2 缺乏症模拟特发性多中心 Castleman 病。

Pediatrics. 2018 Sep;142(3). doi: 10.1542/peds.2017-2266.

Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences.成年兄弟姐妹中腺苷脱氨酶2缺乏症：多年误诊的疾病及其严重后果

Front Immunol. 2018 Jun 14;9:1361. doi: 10.3389/fimmu.2018.01361. eCollection 2018.

Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.腺苷脱氨酶 2 缺乏症（DADA2）：表型、遗传学、发病机制和治疗的最新进展。

J Clin Immunol. 2018 Jul;38(5):569-578. doi: 10.1007/s10875-018-0525-8. Epub 2018 Jun 27.

Eur J Hum Genet. 2018 Jul;26(7):960-971. doi: 10.1038/s41431-018-0130-6. Epub 2018 Apr 23.

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.

Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis.ADA2 缺乏症模拟无网状青斑和血管炎的自身免疫性淋巴增生综合征。

Pediatr Blood Cancer. 2018 Apr;65(4). doi: 10.1002/pbc.26912. Epub 2017 Dec 22.

Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.造血干细胞移植可挽救DADA2患者的血液学、免疫学和血管表型。

Blood. 2017 Dec 14;130(24):2682-2688. doi: 10.1182/blood-2017-07-798660. Epub 2017 Oct 3.

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.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.

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.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Childhood Hodgkin Lymphoma: Think DADA2.

作者信息

机构信息

出版信息

相似文献

引用本文的文献

本文引用的文献

文献检索

文件翻译

深度研究

Suppr 超能文献

相似文献

引用本文的文献

本文引用的文献