Abstract:
PURPOSE:To review the clinical and laboratory spectrum of RAG gene defects in humans, and discuss the mechanisms underlying phenotypic heterogeneity, the basis of immune dysregulation, and the current and perspective treatment modalities. METHODS:Literature review and analysis of medical records RESULTS: RAG gene defects in humans are associated with a surprisingly broad spectrum of clinical and immunological phenotypes. Correlation between in vitro recombination activity of the mutant RAG proteins and the clinical phenotype has been observed. Altered T and B cell development in this disease is associated with defects of immune tolerance. Hematopoietic cell transplantation is the treatment of choice for the most severe forms of the disease, but a high rate of graft failure has been observed. CONCLUSIONS:Phenotypic heterogeneity of RAG gene defects in humans may represent a diagnostic challenge. There is a need to improve treatment for severe, early-onset forms of the disease. Optimal treatment modalities for patients with delayed-onset disease presenting with autoimmunity and/or inflammation remain to be defined.
journal_name
J Clin Immunoljournal_title
Journal of clinical immunologyauthors
Delmonte OM,Schuetz C,Notarangelo LDdoi
10.1007/s10875-018-0537-4subject
Has Abstractpub_date
2018-08-01 00:00:00pages
646-655issue
6eissn
0271-9142issn
1573-2592pii
10.1007/s10875-018-0537-4journal_volume
38pub_type
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journal_title:Journal of clinical immunology
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journal_title:Journal of clinical immunology
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pub_type: 杂志文章,评审
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pub_type: 临床试验,杂志文章,多中心研究
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journal_title:Journal of clinical immunology
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journal_title:Journal of clinical immunology
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更新日期:1995-09-01 00:00:00
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pub_type: 杂志文章
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更新日期:2019-02-01 00:00:00
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journal_title:Journal of clinical immunology
pub_type: 杂志文章
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journal_title:Journal of clinical immunology
pub_type: 杂志文章
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更新日期:2006-01-01 00:00:00
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pub_type: 杂志文章
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更新日期:1982-07-01 00:00:00
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journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-012-9852-3
更新日期:2013-04-01 00:00:00
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journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-012-9800-2
更新日期:2013-01-01 00:00:00
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journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF01541324
更新日期:1995-11-01 00:00:00
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journal_title:Journal of clinical immunology
pub_type: 临床试验,杂志文章
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journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-018-0540-9
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journal_title:Journal of clinical immunology
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journal_title:Journal of clinical immunology
pub_type: 杂志文章
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更新日期:2013-02-01 00:00:00
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journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1023/a:1006676315093
更新日期:2000-09-01 00:00:00
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journal_title:Journal of clinical immunology
pub_type: 杂志文章
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journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00915284
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journal_title:Journal of clinical immunology
pub_type: 杂志文章
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pub_type: 杂志文章
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journal_title:Journal of clinical immunology
pub_type: 杂志文章
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journal_title:Journal of clinical immunology
pub_type: 杂志文章
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更新日期:2013-04-01 00:00:00
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journal_title:Journal of clinical immunology
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更新日期:1987-05-01 00:00:00