期刊
JOURNAL OF EXPERIMENTAL MEDICINE
卷 215, 期 4, 页码 1009-1022出版社
ROCKEFELLER UNIV PRESS
DOI: 10.1084/jem.20172306
关键词
-
资金
- Division of Intramural Research of the National Institute of Allergy and Infectious Diseases, National Institutes of Health
Monogenic disorders have provided fundamental insights into human immunity and the pathogenesis of allergic diseases. The pathways identified as critical in the development of atopy range from focal defects in immune cells and epithelial barrier function to global changes in metabolism. A major goal of studying heritable single-gene disorders that lead to severe clinical allergic diseases is to identify fundamental pathways leading to hypersensitivity that can be targeted to provide novel therapeutic strategies for patients with allergic diseases, syndromic and nonsyndromic alike. Here, we review known single-gene disorders leading to severe allergic phenotypes in humans, discuss how the revealed pathways fit within our current understanding of the atopic diathesis, and propose how some pathways might be targeted for therapeutic benefit.
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