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恶性肿瘤背景下迪格奥尔格综合征的感染性并发症

Infectious Complications of DiGeorge Syndrome in the Setting of Malignancy.

作者信息

Hare Heather, Tiwari Pragya, Baluch Aliyah, Greene John

机构信息

College of Pharmacy, University of Florida Health, Tampa, USA.

Cardiology, Hridaya Clinic, Delhi, IND.

出版信息

Cureus. 2022 Jun 24;14(6):e26277. doi: 10.7759/cureus.26277. eCollection 2022 Jun.

DOI:10.7759/cureus.26277
PMID:35898360
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9308940/
Abstract

This report describes a case of a young man with DiGeorge Syndrome, repaired Tetralogy of Fallot, relapsed metastatic Hodgkin's Lymphoma, immunodeficiency, and a history of recurrent and severe infections. A review of the literature indicates that patients with DiGeorge Syndrome are at greater risk for infection, malignancy, and cardiac events due to anatomic and immunologic complications resulting from a deletion in the 22q11.2 chromosome. As an increased number of patients with DiGeorge Syndrome are surviving into adulthood, it is important to understand the progression of the disease and the long-term implications associated with variable degrees of thymic hypoplasia and immune deficiency.

摘要

本报告描述了一名患有迪格奥尔格综合征、法洛四联症修复术后、复发性转移性霍奇金淋巴瘤、免疫缺陷以及有反复严重感染病史的年轻男性病例。文献综述表明,由于22q11.2染色体缺失导致的解剖学和免疫学并发症,迪格奥尔格综合征患者发生感染、恶性肿瘤和心脏事件的风险更高。随着越来越多的迪格奥尔格综合征患者存活至成年,了解该疾病的进展以及与不同程度胸腺发育不全和免疫缺陷相关的长期影响非常重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb79/9308940/4a7a0f765a33/cureus-0014-00000026277-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb79/9308940/4a7a0f765a33/cureus-0014-00000026277-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb79/9308940/4a7a0f765a33/cureus-0014-00000026277-i01.jpg

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J Pediatr Hematol Oncol. 2022 Apr 1;44(3):e819-e822. doi: 10.1097/MPH.0000000000002388.
2
Impact of Coronavirus Disease 2019 (COVID-19) on Patients With Congenital Heart Disease Across the Lifespan: The Experience of an Academic Congenital Heart Disease Center in New York City.2019 年冠状病毒病(COVID-19)对全生命周期先天性心脏病患者的影响:纽约市一家学术先天性心脏病中心的经验。
J Am Heart Assoc. 2020 Dec;9(23):e017580. doi: 10.1161/JAHA.120.017580. Epub 2020 Oct 14.
3
Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center.
在单中心随访的部分 DiGeorge 综合征患者队列中观察到的临床和免疫学特征。
Blood. 2019 Jun 13;133(24):2586-2596. doi: 10.1182/blood.2018885244. Epub 2019 Apr 23.
4
All-cause mortality and survival in adults with 22q11.2 deletion syndrome.22q11.2 缺失综合征成人的全因死亡率和生存率。
Genet Med. 2019 Oct;21(10):2328-2335. doi: 10.1038/s41436-019-0509-y. Epub 2019 Apr 5.
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6
Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.染色体 22q11.2 缺失综合征相关的可变免疫缺陷与缺失大小有关。
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