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1
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本文引用的文献

1
Recent advances in osteogenesis imperfecta.成骨不全症的最新进展。
Calcif Tissue Int. 2012 Jun;90(6):439-49. doi: 10.1007/s00223-012-9588-3. Epub 2012 Mar 27.
2
Hyper-IgE syndrome update.高免疫球蛋白 E 综合征更新。
Ann N Y Acad Sci. 2012 Feb;1250:25-32. doi: 10.1111/j.1749-6632.2011.06387.x. Epub 2012 Jan 23.
3
Clinical manifestations of hyper IgE syndromes.高免疫球蛋白 E 综合征的临床表现。
Dis Markers. 2010;29(3-4):123-30. doi: 10.3233/DMA-2010-0734.
4
Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis.高免疫球蛋白 E 综合征的诊断方法:免疫和临床关键发现,以区分高免疫球蛋白 E 综合征与特应性皮炎。
J Allergy Clin Immunol. 2010 Sep;126(3):611-7.e1. doi: 10.1016/j.jaci.2010.06.029.
5
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.STAT3 基因突变与高免疫球蛋白 E 综合征的诊断标准。
J Allergy Clin Immunol. 2010 Feb;125(2):424-432.e8. doi: 10.1016/j.jaci.2009.10.059.
6
Clinical manifestations, etiology, and pathogenesis of the hyper-IgE syndromes.高免疫球蛋白 E 综合征的临床表现、病因和发病机制。
Pediatr Res. 2009 May;65(5 Pt 2):32R-37R. doi: 10.1203/PDR.0b013e31819dc8c5.
7
STAT3 mutations in the hyper-IgE syndrome.高免疫球蛋白E综合征中的信号转导和转录激活因子3(STAT3)突变
N Engl J Med. 2007 Oct 18;357(16):1608-19. doi: 10.1056/NEJMoa073687. Epub 2007 Sep 19.
8
Job syndrome masquerading as non-accidental injury.乔布综合征伪装成非意外伤害。
Arch Dis Child. 2008 Jan;93(1):65-7. doi: 10.1136/adc.2007.125443. Epub 2007 Sep 5.
9
Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity.常染色体隐性高免疫球蛋白E综合征:一种独特的疾病实体。
J Pediatr. 2004 Jan;144(1):93-9. doi: 10.1016/S0022-3476(03)00449-9.
10
Genetic linkage of hyper-IgE syndrome to chromosome 4.高免疫球蛋白E综合征与4号染色体的遗传连锁。
Am J Hum Genet. 1999 Sep;65(3):735-44. doi: 10.1086/302547.

一名3岁儿童以成骨不全表现的高免疫球蛋白E综合征。

Hyperimmunoglobulin e syndrome presenting as osteogenesis imperfecta in a 3 year old child.

作者信息

Gorgas Stephen, Abuhammour Walid, Blackwood R Alexander

机构信息

Department of Pediatrics and Communicable Diseases, University of Michigan Medical School , Ann Arbor, MI.

Department of Pediatrics, Hurley Medical Center, Flint, MI, USA.

出版信息

Infect Dis Rep. 2013 Jun 3;5(1):e6. doi: 10.4081/idr.2013.e6. eCollection 2013 Jan 22.

DOI:10.4081/idr.2013.e6
PMID:24470957
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3892618/
Abstract

We present a case of hyperimmunoglobulin E (hyper-IgE) syndrome in a three year old boy. There are many pitfalls in diagnosing this disease in the very young population, mainly due to the ambiguity of some diagnostic criteria in this population. Recognizing this syndrome early in life can potentially be very beneficial to the patients involved and the medical system as a whole. Early diagnosis can lead to fewer diagnostic tests, fewer referrals, and more focused exams, thus potentially reducing medical cost while also reducing the number of serious infections later in life, including those which are potentially fatal. Additionally, a wellknown association between lymphoma and hyper-IgE syndrome has been established; while no recommendations are currently in place for screening, early diagnosis could help medical providers have a higher threshold for diagnosis of this disease.

摘要

我们报告一例3岁男孩的高免疫球蛋白E(高IgE)综合征病例。在非常年幼的人群中诊断这种疾病存在许多陷阱,主要是因为该人群中一些诊断标准不明确。在生命早期识别这种综合征对相关患者和整个医疗系统可能非常有益。早期诊断可以减少诊断测试、转诊次数,并使检查更具针对性,从而有可能降低医疗成本,同时还能减少日后生活中严重感染的数量,包括那些可能致命的感染。此外,淋巴瘤与高IgE综合征之间已建立起一种众所周知的关联;虽然目前尚无筛查建议,但早期诊断有助于医疗人员提高对该疾病的诊断阈值。