Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome.
作者信息
Caminha Iusta, Fleisher Thomas A, Hornung Ronald L, Dale Janet K, Niemela Julie E, Price Susan, Davis Joie, Perkins Katie, Dowdell Kennichi C, Brown Margaret R, Rao V Koneti, Oliveira João Bosco
出版信息
J Allergy Clin Immunol. 2010 Apr;125(4):946-949.e6. doi: 10.1016/j.jaci.2009.12.983. Epub 2010 Mar 15.
Abstract
摘要
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Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome.利用生物标志物预测具有自身免疫性淋巴增生综合征特征的患者中FAS突变的存在情况。
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本文引用的文献
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FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function.FAS-L、IL-10以及双阴性CD4-CD8-TCRα/β+T细胞是与FAS功能丧失相关的自身免疫性淋巴增殖综合征（ALPS）的可靠标志物。
Blood. 2009 Mar 26;113(13):3027-30. doi: 10.1182/blood-2008-09-179630. Epub 2009 Jan 27.
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NRAS mutation causes a human autoimmune lymphoproliferative syndrome.NRAS突变导致一种人类自身免疫性淋巴细胞增生综合征。
Proc Natl Acad Sci U S A. 2007 May 22;104(21):8953-8. doi: 10.1073/pnas.0702975104. Epub 2007 May 16.
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Genetic disorders of programmed cell death in the immune system.免疫系统中程序性细胞死亡的遗传紊乱。
Annu Rev Immunol. 2006;24:321-52. doi: 10.1146/annurev.immunol.24.021605.090513.
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Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome.自身免疫性淋巴细胞增生综合征家族中的免疫表型特征。
Blood. 2001 Oct 15;98(8):2466-73. doi: 10.1182/blood.v98.8.2466.
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Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expression.自身免疫性淋巴增殖综合征中循环和淋巴组织白细胞介素-10的增加与疾病表现相关。
Blood. 2001 May 15;97(10):3161-70. doi: 10.1182/blood.v97.10.3161.
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Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.伴有Fas缺陷的自身免疫性淋巴细胞增生综合征：基因型影响外显率。
Am J Hum Genet. 1999 Apr;64(4):1002-14. doi: 10.1086/302333.
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A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease.一种类似于小鼠lpr/gld疾病的新型淋巴增殖性/自身免疫综合征。
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