Affiliation:
1. Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD
Abstract
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.
Funder
National Institutes of Health
Publisher
Rockefeller University Press
Subject
Immunology,Immunology and Allergy
Cited by
78 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献