Abnormalities of T-cell receptor repertoire in CD4 regulatory and conventional T cells in patients with RAG mutations: Implications for autoimmunity.
作者信息
Rowe Jared H, Stadinski Brian D, Henderson Lauren A, Ott de Bruin Lisa, Delmonte Ottavia, Lee Yu Nee, de la Morena M Teresa, Goyal Rakesh K, Hayward Anthony, Huang Chiung-Hui, Kanariou Maria, King Alejandra, Kuijpers Taco W, Soh Jian Yi, Neven Benedicte, Walter Jolan E, Huseby Eric S, Notarangelo Luigi D
机构信息
Division of Immunology, Boston Children's Hospital, Boston, Mass.
Department of Pathology, University of Massachusetts Medical School, Worcester, Mass.
出版信息
J Allergy Clin Immunol. 2017 Dec;140(6):1739-1743.e7. doi: 10.1016/j.jaci.2017.08.001. Epub 2017 Aug 31.
Abstract
摘要
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本文引用的文献
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Deep sequencing of the TCR-β repertoire of human forkhead box protein 3 (FoxP3) and FoxP3 T cells suggests that they are completely distinct and non-overlapping.对人类叉头框蛋白3（FoxP3）和FoxP3 T细胞的TCR-β库进行深度测序表明，它们完全不同且不重叠。
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Hydrophobic CDR3 residues promote the development of self-reactive T cells.疏水性互补决定区3残基促进自身反应性T细胞的发育。
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A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.人类重组激活基因 1 缺陷中的重组活性和基因型-表型相关性的系统分析。
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Hypomorphic Rag mutations can cause destructive midline granulomatous disease.低等位基因突变可引起破坏性中线肉芽肿病。
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Defect of regulatory T cells in patients with Omenn syndrome.奥姆enn 综合征患者调节性 T 细胞缺陷。
J Allergy Clin Immunol. 2010 Jan;125(1):209-16. doi: 10.1016/j.jaci.2009.10.023.
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Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome.人类T细胞发育的早期缺陷严重影响胸腺基质细胞的分布和成熟：对奥门综合征病理生理学的可能影响。
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Activation-induced FOXP3 in human T effector cells does not suppress proliferation or cytokine production.人类效应T细胞中激活诱导的FOXP3并不抑制增殖或细胞因子产生。
Int Immunol. 2007 Apr;19(4):345-54. doi: 10.1093/intimm/dxm014. Epub 2007 Feb 27.
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Biological diversity.生物多样性
Curr Biol. 2005 Feb 22;15(4):R116-8. doi: 10.1016/j.cub.2005.02.006.
9
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.免疫失调、多内分泌腺病、肠病、X连锁综合征（IPEX）由FOXP3基因突变引起。
Nat Genet. 2001 Jan;27(1):20-1. doi: 10.1038/83713.
10
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.由于重组激活基因（RAG）突变导致淋巴细胞中的V（D）J重组缺陷：伴有一系列临床表现的严重免疫缺陷。
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