酪氨酸激酶 2 缺乏症而无高免疫球蛋白 E 综合征的患者。
A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome.
机构信息
Department of Pediatrics, Uludag University School of Medicine, Bursa, Turkey.
出版信息
J Pediatr. 2012 Jun;160(6):1055-7. doi: 10.1016/j.jpeds.2012.01.056. Epub 2012 Mar 7.
Abstract
We describe a Turkish patient with tyrosine kinase 2 deficiency who suffered from disseminated Bacille Calmette-Guerin infection, neurobrucellosis, and cutaneous herpes zoster infection. Tyrosine kinase 2 deficiency should be considered in patients susceptible to herpes viruses and intramacrophage pathogens even in the absence of atopy, high serum IgE, and staphylococcal disease.
摘要
我们描述了一名土耳其酪氨酸激酶 2 缺乏症患者，他患有播散性卡介苗感染、神经布鲁氏菌病和皮肤带状疱疹感染。即使没有特应性、高血清 IgE 和葡萄球菌病，酪氨酸激酶 2 缺乏症也应考虑易感染疱疹病毒和细胞内病原体的患者。
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本文引用的文献
1
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J Exp Med. 2011 Oct 24;208(11):2305-20. doi: 10.1084/jem.20110345. Epub 2011 Oct 17.
2
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.常染色体隐性遗传形式的高免疫球蛋白 E 综合征中涉及胞质分裂因子 8 (DOCK8)的大片段缺失和点突变。
J Allergy Clin Immunol. 2009 Dec;124(6):1289-302.e4. doi: 10.1016/j.jaci.2009.10.038.
3
Neurobrucellosis: an evaluation of a rare presentation of brucellosis from a tertiary care centre in Central Anatolia, Turkey.神经型布鲁氏菌病：对土耳其安纳托利亚中部一家三级医疗中心布鲁氏菌病罕见表现的评估。
Trop Doct. 2009 Oct;39(4):233-5. doi: 10.1258/td.2009.080430.
4
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.
5
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Nature. 2007 Aug 30;448(7157):1058-62. doi: 10.1038/nature06096. Epub 2007 Aug 5.
6
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Biochimie. 2007 Jun-Jul;89(6-7):878-83. doi: 10.1016/j.biochi.2007.04.016. Epub 2007 May 8.
7
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8
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9
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Semin Immunol. 2006 Dec;18(6):347-61. doi: 10.1016/j.smim.2006.07.010. Epub 2006 Sep 25.
10
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications.白细胞介素12受体β1缺乏症的低外显率、广泛抗性及良好预后：医学与免疫学意义
J Exp Med. 2003 Feb 17;197(4):527-35. doi: 10.1084/jem.20021769.
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