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1
Partial RAG deficiency in a patient with varicella infection, autoimmune cytopenia, and anticytokine antibodies.
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.
4
Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency.
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.
J Clin Invest. 2015 Nov 2;125(11):4135-48. doi: 10.1172/JCI80477. Epub 2015 Oct 12.
7
Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.
J Clin Immunol. 2022 Jan;42(1):130-145. doi: 10.1007/s10875-021-01130-3. Epub 2021 Oct 18.
10
Complete heart block in a 5-year-old child with varicella and acute thrombocytopenic purpura.
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.
Int J Mol Sci. 2023 Dec 30;25(1):515. doi: 10.3390/ijms25010515.
3
Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.
Clin Exp Immunol. 2024 Feb 7;215(2):160-176. doi: 10.1093/cei/uxad110.
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Separating the Wheat From the Chaff in Asthma and Bronchiectasis: The Saga Trajectory of a Patient With Adult-Onset RAG1 Deficiency.
J Allergy Clin Immunol Pract. 2023 Jun;11(6):1972-1980. doi: 10.1016/j.jaip.2023.04.005. Epub 2023 Apr 23.
6
RAG1 splicing mutation causes enhanced B cell differentiation and autoantibody production.
JCI Insight. 2021 Oct 8;6(19):e148887. doi: 10.1172/jci.insight.148887.
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Autoimmunity as a continuum in primary immunodeficiency.
Curr Opin Pediatr. 2019 Dec;31(6):851-862. doi: 10.1097/MOP.0000000000000833.

本文引用的文献

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Characterization of T and B cell repertoire diversity in patients with RAG deficiency.
Sci Immunol. 2016 Dec 16;1(6). doi: 10.1126/sciimmunol.aah6109.
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Human RAG mutations: biochemistry and clinical implications.
Nat Rev Immunol. 2016 Apr;16(4):234-46. doi: 10.1038/nri.2016.28. Epub 2016 Mar 21.
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Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.
J Clin Invest. 2015 Nov 2;125(11):4135-48. doi: 10.1172/JCI80477. Epub 2015 Oct 12.
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Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment.
Blood. 2014 Oct 9;124(15):2337-44. doi: 10.1182/blood-2014-06-583260. Epub 2014 Aug 27.
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Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations.
J Allergy Clin Immunol. 2014 Mar;133(3):880-2.e10. doi: 10.1016/j.jaci.2013.11.038. Epub 2014 Jan 25.
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A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
J Allergy Clin Immunol. 2014 Apr;133(4):1099-108. doi: 10.1016/j.jaci.2013.10.007. Epub 2013 Nov 28.
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Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity.
J Allergy Clin Immunol. 2013 Oct;132(4):969-71.e1-2. doi: 10.1016/j.jaci.2013.06.032. Epub 2013 Jul 24.
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Severe autoimmune cytopenias in treatment-naive hepatitis C virus infection: clinical description of 35 cases.
Medicine (Baltimore). 2003 Mar;82(2):87-96. doi: 10.1097/00005792-200303000-00003.
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Partial V(D)J recombination activity leads to Omenn syndrome.
Cell. 1998 May 29;93(5):885-96. doi: 10.1016/s0092-8674(00)81448-8.

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