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A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.

作者信息

Chou Janet, Hanna-Wakim Rima, Tirosh Irit, Kane Jennifer, Fraulino David, Lee Yu Nee, Ghanem Soha, Mahfouz Iman, Mégarbané André, Lefranc Gérard, Inati Adlette, Dbaibo Ghassan, Giliani Silvia, Notarangelo Luigi D, Geha Raif S, Massaad Michel J

出版信息

J Allergy Clin Immunol. 2012 Dec;130(6):1414-6. doi: 10.1016/j.jaci.2012.06.012. Epub 2012 Jul 25.

DOI:10.1016/j.jaci.2012.06.012
PMID:22841008
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3511613/
Abstract
摘要

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本文引用的文献

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Repair of chromosomal RAG-mediated DNA breaks by mutant RAG proteins lacking phosphatidylinositol 3-like kinase consensus phosphorylation sites.突变的 RAG 蛋白缺乏磷脂酰肌醇 3 样激酶共有磷酸化位点，可修复 RAG 介导的染色体 DNA 断裂。
J Immunol. 2011 Aug 15;187(4):1826-34. doi: 10.4049/jimmunol.1101388. Epub 2011 Jul 8.
2
Recombination centres and the orchestration of V(D)J recombination.重组中心与 V(D)J 重组的调控。
Nat Rev Immunol. 2011 Apr;11(4):251-63. doi: 10.1038/nri2941. Epub 2011 Mar 11.
3
Hypomorphic Rag mutations can cause destructive midline granulomatous disease.
低表达RAG2缺陷促进自身反应性B细胞的选择。
J Clin Immunol. 2025 Jan 15;45(1):66. doi: 10.1007/s10875-024-01849-9.
4
Case report: Identification of a Chinese patient with mutations initially presenting as autoimmune hemolytic anemia.病例报告：一名最初表现为自身免疫性溶血性贫血的中国患者的突变鉴定。
Front Immunol. 2024 Dec 10;15:1498066. doi: 10.3389/fimmu.2024.1498066. eCollection 2024.
5
Evolutionary preservation of CpG dinucleotides in RAG1 may elucidate the relatively high rate of methylation-mediated mutagenesis of RAG1 transposase.RAG1 中 CpG 二核苷酸的进化保存可能阐明 RAG1 转座酶中甲基化介导的突变率相对较高的原因。
Immunol Res. 2024 Jun;72(3):438-449. doi: 10.1007/s12026-023-09451-8. Epub 2024 Jan 19.
6
Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.RAG1 和 RAG2 缺陷的异质性：来自单一中心的 35 例病例。
Clin Exp Immunol. 2024 Feb 7;215(2):160-176. doi: 10.1093/cei/uxad110.
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The recombinase activating genes: architects of immune diversity during lymphocyte development.重组激活基因：淋巴细胞发育过程中免疫多样性的构建者。
Front Immunol. 2023 Jul 11;14:1210818. doi: 10.3389/fimmu.2023.1210818. eCollection 2023.
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Blood. 2010 Aug 26;116(8):1263-71. doi: 10.1182/blood-2010-02-267583. Epub 2010 May 20.
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J Allergy Clin Immunol. 2010 Apr;125(4):778-87. doi: 10.1016/j.jaci.2010.02.018.
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Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination.对 SCID 和 Omenn 综合征患者突变的分析揭示了 Rag2 PHD 结构域在调控 V(D)J 重组中的核心作用。
J Clin Invest. 2010 Apr;120(4):1337-44. doi: 10.1172/JCI41305. Epub 2010 Mar 15.
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More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.不仅仅是 SCID——与重组激活基因 (RAG) 1 和 2 突变相关的联合免疫缺陷的表型范围。
Clin Immunol. 2010 May;135(2):183-92. doi: 10.1016/j.clim.2010.01.013. Epub 2010 Feb 20.
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An immunodeficiency disease with RAG mutations and granulomas.一种伴有RAG突变和肉芽肿的免疫缺陷病。
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A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome.一种低表达的R229Q Rag2小鼠突变体概括了人类奥门综合征。
J Clin Invest. 2007 May;117(5):1260-9. doi: 10.1172/JCI30928.
9
Evolution of a T-B- SCID into an Omenn syndrome phenotype following parainfluenza 3 virus infection.副流感3病毒感染后，T-B-SCID演变为奥门综合征表型。
Clin Immunol. 2005 Apr;115(1):70-3. doi: 10.1016/j.clim.2004.08.016.