Primary atopic disorders

被引：80

作者：

Lyons, Jonathan J. ^{[1
]}

Milner, Joshua D. ^{[1
]}

机构：

[1] NIAID, Lab Allerg Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA

来源：

JOURNAL OF EXPERIMENTAL MEDICINE | 2018年 / 215卷 / 04期

基金：

美国国家卫生研究院;

关键词：

HYPER-IGE SYNDROME; SEVERE COMBINED IMMUNODEFICIENCY; REGULATORY T-CELLS; WISKOTT-ALDRICH-SYNDROME; OF-FUNCTION MUTATIONS; INFLAMMATORY-BOWEL-DISEASE; SKIN BARRIER FUNCTION; LINKED-LIKE SYNDROME; TGF-BETA RECEPTOR; HUMAN B-CELLS;

D O I：

10.1084/jem.20172306

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

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.

引用

页码：1009 / 1022

页数：14

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