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一名患有突变的青少年的播散性感染

Disseminated Infection in an Adolescent With a Mutation.

作者信息

Most Zachary M, Lieu Tiffany, Filkins Laura, Nicolaides Rory, Rakheja Dinesh, Gelfand Andrew, Kahn Jeffrey

机构信息

University of Texas Southwestern Medical Center, Department of Pediatrics, Division of Infectious Disease, Dallas, Texas, USA.

University of Texas Southwestern Medical Center, Department of Pediatrics, Division of Hospital Medicine, Dallas, Texas, USA.

出版信息

Open Forum Infect Dis. 2020 Aug 27;7(9):ofaa390. doi: 10.1093/ofid/ofaa390. eCollection 2020 Sep.

DOI:10.1093/ofid/ofaa390
PMID:33005702
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7518371/
Abstract

An adolescent with failure to thrive developed cuboid bone osteomyelitis and brain abscesses. Mold isolated from both locations was identified by universal genetic sequencing as spp, which is typically a pathogen of reptiles. The patient was subsequently diagnosed with a mutation and was successfully treated.

摘要

一名发育不良的青少年患上了骰骨骨髓炎和脑脓肿。从这两个部位分离出的霉菌通过通用基因测序鉴定为 spp，它通常是爬行动物的病原体。该患者随后被诊断出患有 突变，并得到了成功治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ffb/7518371/2ab2ab126734/ofaa390f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ffb/7518371/2608dec161f9/ofaa390f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ffb/7518371/2ab2ab126734/ofaa390f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ffb/7518371/2608dec161f9/ofaa390f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ffb/7518371/2ab2ab126734/ofaa390f0002.jpg

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本文引用的文献

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Emerg Infect Dis. 2018 Mar;24(3):549-552. doi: 10.3201/eid2403.170772.
2
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Med Mycol Case Rep. 2017 Jun 9;17:20-24. doi: 10.1016/j.mmcr.2017.06.002. eCollection 2017 Sep.
3
A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis.
信号转导和转录激活因子1（STAT1）的功能获得性突变：一种导致慢性黏膜皮肤念珠菌病的新型遗传因素。
Acta Microbiol Immunol Hung. 2017 Jun 1;64(2):191-201. doi: 10.1556/030.64.2017.014. Epub 2017 Jun 9.
4
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.26例因信号转导和转录激活因子1（STAT1）功能获得性突变所致慢性黏膜皮肤念珠菌病患者的扩展临床表型
J Clin Immunol. 2016 Jan;36(1):73-84. doi: 10.1007/s10875-015-0214-9. Epub 2015 Nov 25.
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ITS1: a DNA barcode better than ITS2 in eukaryotes?ITS1：真核生物中比 ITS2 更好的 DNA 条码？
Mol Ecol Resour. 2015 May;15(3):573-86. doi: 10.1111/1755-0998.12325. Epub 2014 Sep 24.
6
Phylogeny of chrysosporia infecting reptiles: proposal of the new family Nannizziopsiaceae and five new species.感染爬行动物的 Chrysosporia 系统发育：新科 Nannizziopsiaceae 的提出和五个新种。
Persoonia. 2013 Dec;31:86-100. doi: 10.3767/003158513X669698. Epub 2013 Jun 17.
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Fatal combined immunodeficiency associated with heterozygous mutation in STAT1.与 STAT1 杂合突变相关的致命性联合免疫缺陷。
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