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Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity.

作者信息

Henderson Lauren A, Frugoni Francesco, Hopkins Gregory, de Boer Helen, Pai Sung-Yun, Lee Yu Nee, Walter Jolan E, Hazen Melissa M, Notarangelo Luigi D

机构信息

Division of Immunology, Boston Children's Hospital, Boston, Mass.

Division of Hematology and Oncology, Boston Children's Hospital, Boston, Mass.

出版信息

J Allergy Clin Immunol. 2013 Oct;132(4):969-71.e1-2. doi: 10.1016/j.jaci.2013.06.032. Epub 2013 Jul 24.

DOI:10.1016/j.jaci.2013.06.032
PMID:23891352
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3874115/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d841/3874115/0dd8d7de198a/nihms-509986-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d841/3874115/0dd8d7de198a/nihms-509986-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d841/3874115/0dd8d7de198a/nihms-509986-f0001.jpg

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本文引用的文献

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Blood. 2011 Jun 2;117(22):5892-6. doi: 10.1182/blood-2011-01-329052. Epub 2011 Apr 18.
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Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency.Rag 依赖性免疫缺陷症中免疫球蛋白分泌细胞的扩增和 B 细胞耐受缺陷。
J Exp Med. 2010 Jul 5;207(7):1541-54. doi: 10.1084/jem.20091927. Epub 2010 Jun 14.
3
Lack of nonfunctional B-cell receptor rearrangements in a patient with normal B cell numbers despite partial RAG1 deficiency and atypical SCID/Omenn syndrome.
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Immunol Res. 2024 Jun;72(3):438-449. doi: 10.1007/s12026-023-09451-8. Epub 2024 Jan 19.
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Nat Immunol. 2022 Aug;23(8):1256-1272. doi: 10.1038/s41590-022-01271-6. Epub 2022 Jul 28.
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