期刊
IMMUNOLOGICAL REVIEWS
卷 287, 期 1, 页码 73-90出版社
WILEY
DOI: 10.1111/imr.12713
关键词
autoimmunity; immunodeficiency; immunological tolerance; Omenn syndrome; recombinase activating genes
类别
资金
- Fondazione Telethon
- Division of Intramural Research, National Institute of Allergy and Infectious Diseases
- Division of Intramural Research
- National Institute of Allergy and Infectious Diseases
- National Institutes of Health, Bethesda, MD, USA
- National Program of CNR Aging Project
- Consiglio Nazionale delle Ricerche
- NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES [ZIAAI001222] Funding Source: NIH RePORTER
Mutations of the recombinase activating genes (RAG) in humans underlie a broad spectrum of clinical and immunological phenotypes that reflect different degrees of impairment of T- and B-cell development and alterations of mechanisms of central and peripheral tolerance. Recent studies have shown that this phenotypic heterogeneity correlates, albeit imperfectly, with different levels of recombination activity of the mutant RAG proteins. Furthermore, studies in patients and in newly developed animal models carrying hypomorphic RAG mutations have disclosed various mechanisms underlying immune dysregulation in this condition. Careful annotation of clinical outcome and immune reconstitution in RAG-deficient patients who have received hematopoietic stem cell transplantation has shown that progress has been made in the treatment of this disease, but new approaches remain to be tested to improve stem cell engraftment and durable immune reconstitution. Finally, initial attempts have been made to treat RAG deficiency with gene therapy.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据