In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation.
作者信息
Hansford Jordan R, Pal Manika, Poplawski Nicola, Haan Eric, Boog Bernadette, Ferrante Antonio, Davis Joie, Niemela Julie E, Rao V Koneti, Suppiah Ram
出版信息
Haematologica. 2013 Apr;98(4):e38-9. doi: 10.3324/haematol.2012.070524. Epub 2012 Sep 14.
Abstract
摘要
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In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation.一个携带新型FAS突变的家族中自身免疫性淋巴细胞增生综合征的宫内及出生后早期表现
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How I treat autoimmune lymphoproliferative syndrome.我如何治疗自身免疫性淋巴组织增生综合征。
Blood. 2011 Nov 24;118(22):5741-51. doi: 10.1182/blood-2011-07-325217. Epub 2011 Sep 1.
2
Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation.由于遗传缺陷的积累，导致人类自身免疫性淋巴增生综合征（ALPS）的发作。
J Clin Invest. 2011 Jan;121(1):106-12. doi: 10.1172/JCI43752. Epub 2010 Dec 22.
3
Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop.自身免疫性淋巴组织增生综合征（ALPS）的修订诊断标准和分类：来自 2009 年 NIH 国际研讨会的报告。
Blood. 2010 Oct 7;116(14):e35-40. doi: 10.1182/blood-2010-04-280347. Epub 2010 Jun 10.
4
Residual CD95-pathway function in children with autoimmune lymphoproliferative syndrome is independent from clinical state and genotype of CD95 mutation.自身免疫性淋巴增生综合征患儿中残留的CD95通路功能独立于CD95突变的临床状态和基因型。
Pediatr Res. 2009 Feb;65(2):163-8. doi: 10.1203/PDR.0b013e318191f7e4.
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Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6.
Mol Cell Probes. 2006 Feb;20(1):21-6. doi: 10.1016/j.mcp.2005.05.004. Epub 2005 Nov 4.
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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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The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis.在具有种系Fas突变和淋巴细胞凋亡缺陷的自身免疫性淋巴增生综合征家族中淋巴瘤的发生情况。
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