Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach

被引：93

作者：

Nigrovic, Peter A. ^{[1
,2
]}

Lee, Pui Y. ^{[1
,2
]}

Hoffman, Hal M. ^{[3
,4
]}

机构：

[1] Boston Childrens Hosp, Dept Pediat, Div Immunol, Boston, MA USA

[2] Harvard Med Sch, Div Rheumatol Inflammat & Immun, Brigham & Womens Hosp, Dept Med, Boston, MA 02115 USA

[3] Rady Childrens Hosp, Div Pediat Allergy Immunol & Rheumatol, San Diego, CA USA

[4] Univ Calif San Diego, San Diego, CA 92103 USA

来源：

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY | 2020年 / 146卷 / 05期

基金：

美国国家卫生研究院;

关键词：

Autoinflammation; innate immunity; inflammasome; IFN; NF-kappa B; NF-KAPPA-B; INTERLEUKIN-36-RECEPTOR ANTAGONIST DEFICIENCY; FAMILIAL MEDITERRANEAN FEVER; AICARDI-GOUTIERES-SYNDROME; ADENOSINE-DEAMINASE; PERIODIC FEVER; I INTERFERON; PHOSPHOLIPASE C-GAMMA-2; NEUTROPHILIC DERMATOSIS; PYODERMA-GANGRENOSUM;

D O I：

10.1016/j.jaci.2020.08.017

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

Autoinflammatory diseases are conditions in which pathogenic inflammation arises primarily through antigen-independent hyperactivation of immune pathways. First recognized just over 2 decades ago, the autoinflammatory disease spectrum has expanded rapidly to include more than 40 distinct monogenic conditions. Related mechanisms contribute to common conditions such as gout and cardiovascular disease. Here, we review the basic concepts underlying the "autoinflammatory revolution'' in the understanding of immune-mediated disease and introduce major categories of monogenic autoinflammatory disorders recognized to date, including inflammasomopathies and other IL-1-related conditions, interferonopathies, and disorders of nuclear factor kappa B and/or aberrant TNF activity. We highlight phenotypic presentation as a reflection of pathogenesis and outline a practical approach to the evaluation of patients with suspected autoinflammation.

引用

页码：925 / 937

页数：13