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1
Partial RAG deficiency in a patient with varicella infection, autoimmune cytopenia, and anticytokine antibodies.一名患有水痘感染、自身免疫性血细胞减少症和抗细胞因子抗体的患者存在部分重组激活基因（RAG）缺陷。
J Allergy Clin Immunol Pract. 2018 Sep-Oct;6(5):1769-1771.e2. doi: 10.1016/j.jaip.2018.01.015. Epub 2018 Feb 2.
2
Disseminated infection with varicella-zoster virus vaccine strain presenting as hepatitis in a child with adenosine deaminase deficiency.在一名患有腺苷脱氨酶缺乏症的儿童中，水痘-带状疱疹病毒疫苗株播散感染表现为肝炎。
Pediatr Infect Dis J. 2000 Aug;19(8):764-6. doi: 10.1097/00006454-200008000-00022.
3
Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency.一名患有联合免疫缺陷、肉芽肿病及因RAG缺陷继发自身免疫性疾病患者的非亲缘造血干细胞移植
J Clin Immunol. 2016 Oct;36(7):725-32. doi: 10.1007/s10875-016-0326-x. Epub 2016 Aug 18.
4
Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency.血管炎作为部分 RAG 缺陷患者的主要致残因素。
Front Immunol. 2020 Oct 21;11:574738. doi: 10.3389/fimmu.2020.574738. eCollection 2020.
5
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.针对RAG缺陷中自身抗原和细胞因子的广谱抗体。
J Clin Invest. 2015 Nov 2;125(11):4135-48. doi: 10.1172/JCI80477. Epub 2015 Oct 12.
6
Early detection of Varicella-Zoster virus (VZV)-specific T-cells before seroconversion in primary varicella infection: case report.原发性水痘感染中血清转化前水痘带状疱疹病毒（VZV）特异性 T 细胞的早期检测：病例报告。
Virol J. 2010 Mar 6;7:54. doi: 10.1186/1743-422X-7-54.
7
Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.RAG 缺陷的临床、免疫和分子变异性：22 例 RAG 患者的回顾性分析。
J Clin Immunol. 2022 Jan;42(1):130-145. doi: 10.1007/s10875-021-01130-3. Epub 2021 Oct 18.
8
Reversion of serum VZV-IgG antibody preceding disseminated visceral varicella zoster after hematopoietic stem cell transplantation.造血干细胞移植后播散性内脏水痘带状疱疹之前血清水痘带状疱疹病毒IgG抗体的逆转
Ann Hematol. 2017 Mar;96(3):529-530. doi: 10.1007/s00277-016-2876-7. Epub 2016 Nov 14.
9
Epstein-Barr virus-related lymph node lesion resembling autoimmune disease-like clinicopathological findings in elderly patients. Report of three cases.老年患者中类似自身免疫性疾病临床病理表现的爱泼斯坦-巴尔病毒相关淋巴结病变。三例报告。
APMIS. 2003 Dec;111(12):1083-8. doi: 10.1111/j.1600-0463.2003.apm1111202.x.
10
Complete heart block in a 5-year-old child with varicella and acute thrombocytopenic purpura.一名患有水痘和急性血小板减少性紫癜的5岁儿童发生完全性心脏传导阻滞。
BMJ Case Rep. 2012 Jan 3;2012:bcr1020114985. doi: 10.1136/bcr.10.2011.4985.

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1
Anticytokine Autoantibodies in Infectious Diseases: A Practical Overview.感染性疾病中的抗细胞因子自身抗体：实用概述。
Int J Mol Sci. 2023 Dec 30;25(1):515. doi: 10.3390/ijms25010515.
2
Clinical, immunological features, treatments, and outcomes of autoimmune hemolytic anemia in patients with RAG deficiency.RAG缺陷患者自身免疫性溶血性贫血的临床、免疫学特征、治疗及结局
Blood Adv. 2024 Feb 13;8(3):603-607. doi: 10.1182/bloodadvances.2023011264.
3
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.
4
Separating the Wheat From the Chaff in Asthma and Bronchiectasis: The Saga Trajectory of a Patient With Adult-Onset RAG1 Deficiency.区分哮喘和支气管扩张中的精华与糟粕：一位成人起病的RAG1缺乏症患者的曲折历程
J Allergy Clin Immunol Pract. 2023 Jun;11(6):1972-1980. doi: 10.1016/j.jaip.2023.04.005. Epub 2023 Apr 23.
5
Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet B cells.人类部分 RAG 缺陷导致外周淋巴细胞发育失调和体液免疫耐受缺陷，伴有 T-bet+B 细胞的积累。
Nat Immunol. 2022 Aug;23(8):1256-1272. doi: 10.1038/s41590-022-01271-6. Epub 2022 Jul 28.
6
RAG1 splicing mutation causes enhanced B cell differentiation and autoantibody production.RAG1 剪接突变导致 B 细胞分化增强和自身抗体产生。
JCI Insight. 2021 Oct 8;6(19):e148887. doi: 10.1172/jci.insight.148887.
7
Corticosteroids Contribute to Serious Adverse Events Following Live Attenuated Varicella Vaccination and Live Attenuated Zoster Vaccination.皮质类固醇会导致减毒活水痘疫苗和减毒活带状疱疹疫苗接种后出现严重不良事件。
Vaccines (Basel). 2021 Jan 6;9(1):23. doi: 10.3390/vaccines9010023.
8
Asymptomatic Infant With Atypical SCID and Novel Hypomorphic Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma.无症状婴儿伴非典型 SCID 和由新生儿筛查发现的新型功能缺失变异：诊断和治疗困境。
Front Immunol. 2020 Sep 29;11:1954. doi: 10.3389/fimmu.2020.01954. eCollection 2020.
9
The Clinical and Genetic Spectrum of 82 Patients With Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.82 例患者的临床和遗传学特征，包括在斯拉夫国家中发现的 c.256_257delAA 创始变体。
Front Immunol. 2020 Jun 10;11:900. doi: 10.3389/fimmu.2020.00900. eCollection 2020.
10
Autoimmunity as a continuum in primary immunodeficiency.自身免疫作为原发性免疫缺陷中的一个连续谱。
Curr Opin Pediatr. 2019 Dec;31(6):851-862. doi: 10.1097/MOP.0000000000000833.

本文引用的文献

1
Characterization of T and B cell repertoire diversity in patients with RAG deficiency.RAG缺陷患者T和B细胞受体库多样性的特征分析
Sci Immunol. 2016 Dec 16;1(6). doi: 10.1126/sciimmunol.aah6109.
2
Human RAG mutations: biochemistry and clinical implications.人类RAG突变：生物化学及临床意义
Nat Rev Immunol. 2016 Apr;16(4):234-46. doi: 10.1038/nri.2016.28. Epub 2016 Mar 21.
3
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.针对RAG缺陷中自身抗原和细胞因子的广谱抗体。
J Clin Invest. 2015 Nov 2;125(11):4135-48. doi: 10.1172/JCI80477. Epub 2015 Oct 12.
4
Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment.原发性免疫缺陷中的自身免疫性及其他血细胞减少症：发病机制、新型鉴别诊断及治疗
Blood. 2014 Oct 9;124(15):2337-44. doi: 10.1182/blood-2014-06-583260. Epub 2014 Aug 27.
5
Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations.由于RAG缺乏导致的自身免疫以及RAG1/2突变中的估计疾病发病率。
J Allergy Clin Immunol. 2014 Mar;133(3):880-2.e10. doi: 10.1016/j.jaci.2013.11.038. Epub 2014 Jan 25.
6
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。
J Allergy Clin Immunol. 2014 Apr;133(4):1099-108. doi: 10.1016/j.jaci.2013.10.007. Epub 2013 Nov 28.
7
Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity.扩展重组激活基因1缺陷的谱系：一个患有早发性自身免疫病的家族。
J Allergy Clin Immunol. 2013 Oct;132(4):969-71.e1-2. doi: 10.1016/j.jaci.2013.06.032. Epub 2013 Jul 24.
8
Severe autoimmune cytopenias in treatment-naive hepatitis C virus infection: clinical description of 35 cases.初治丙型肝炎病毒感染中的严重自身免疫性血细胞减少症：35例临床描述
Medicine (Baltimore). 2003 Mar;82(2):87-96. doi: 10.1097/00005792-200303000-00003.
9
Partial V(D)J recombination activity leads to Omenn syndrome.部分V(D)J重组活性导致奥门综合征。
Cell. 1998 May 29;93(5):885-96. doi: 10.1016/s0092-8674(00)81448-8.

Partial RAG deficiency in a patient with varicella infection, autoimmune cytopenia, and anticytokine antibodies.

作者信息

Goda Vera, Malik Aniko, Kalmar Tibor, Maroti Zoltan, Patel Bhumika, Ujhazi Boglarka, Csomos Krisztian, Hale Jaime E, Chen Karin, Bleesing Jacob, Palma Paolo, Cancrini Caterina, Comeau Anne M, Krivan Gergely, Walter Jolan E

机构信息

Department of Pediatric Hematology and Stem Cell Transplantation, United Saint Istvan and Saint Laszlo Hospital, Budapest, Hungary.

Department of Pediatrics, Semmelweis University, Budapest, Hungary.

出版信息

J Allergy Clin Immunol Pract. 2018 Sep-Oct;6(5):1769-1771.e2. doi: 10.1016/j.jaip.2018.01.015. Epub 2018 Feb 2.

DOI:10.1016/j.jaip.2018.01.015
PMID:29410113
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6072614/
Abstract
摘要