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对一名失聪青少年男性复发性和顽固性疣的评估显示存在GATA2缺陷。

Evaluation of recurrent and recalcitrant warts in a deaf adolescent male reveals GATA2 deficiency.

作者信息

Doan Dieu T, Strebeck Paige V, Tran Andrew D, Farrar Jason E, Appell Lauren E, Modi Arunkumar J, Jefferson Akilah A

机构信息

Division of Allergy and Immunology, Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Ark.

Division of Hematology and Oncology, Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Ark.

出版信息

J Allergy Clin Immunol Glob. 2024 Jul 26;3(4):100313. doi: 10.1016/j.jacig.2024.100313. eCollection 2024 Nov.

DOI:10.1016/j.jacig.2024.100313
PMID:39221430
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11364118/
Abstract

Prompt evaluation and genetic testing of patients who present with recurrent and recalcitrant warts, before onset of severe infection or myelodysplastic syndrome, leads to improved outcomes in patients with GATA2 deficiency.

摘要

在严重感染或骨髓增生异常综合征发作之前，对出现复发性和顽固性疣的患者进行及时评估和基因检测，可改善GATA2缺乏症患者的预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c68/11364118/afb50b5bc020/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c68/11364118/1ba9b470c6f1/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c68/11364118/afb50b5bc020/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c68/11364118/1ba9b470c6f1/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c68/11364118/afb50b5bc020/gr2.jpg

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本文引用的文献

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J Allergy Clin Immunol Pract. 2022 Jul;10(7):1676-1687. doi: 10.1016/j.jaip.2022.05.017. Epub 2022 May 25.
2
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.遗传性 GATA2 缺陷是由杂合性不足引起的显性遗传，并表现出不完全的临床外显率。
J Clin Immunol. 2021 Apr;41(3):639-657. doi: 10.1007/s10875-020-00930-3. Epub 2021 Jan 8.
3
Allogeneic Hematopoietic Stem Cell Transplantation for GATA2 Deficiency Using a Busulfan-Based Regimen.
异基因造血干细胞移植治疗 GATA2 缺陷症：采用基于白消安的方案。
Biol Blood Marrow Transplant. 2018 Jun;24(6):1250-1259. doi: 10.1016/j.bbmt.2018.01.030. Epub 2018 Feb 3.
4
Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome.B细胞及其前体的缺失是儿童骨髓增生异常综合征中GATA-2缺乏最常见的特征。
Haematologica. 2016 Jun;101(6):707-16. doi: 10.3324/haematol.2015.137711. Epub 2016 Mar 24.
5
GATA2 deficiency.GATA2缺陷
Curr Opin Allergy Clin Immunol. 2015 Feb;15(1):104-9. doi: 10.1097/ACI.0000000000000126.
6
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.GATA2 缺陷：一种造血、淋巴和免疫功能多样的疾病。
Blood. 2014 Feb 6;123(6):809-21. doi: 10.1182/blood-2013-07-515528. Epub 2013 Nov 13.
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