Genetics of somatic auto-inflammatory disorders

被引：24

作者：

Poulter, James A. ^{[1
]}

Savic, Sinisa ^{[2
]}

机构：

[1] Univ Leeds, Leeds Inst Med Res, Leeds, W Yorkshire, England

[2] Univ Leeds, Leeds Inst Rheumatol & Musculoskeletal Med, Leeds, W Yorkshire, England

来源：

SEMINARS IN HEMATOLOGY | 2021年 / 58卷 / 04期

关键词：

VEXAS; UBA1; NLRP3; Auto-Inflammatory Disease; SAID; Schnitzler's syndrome; MYELODYSPLASTIC SYNDROME; NLRP3; INFLAMMASOME; VEXAS SYNDROME; MOSAICISM; MUTATION; DISEASE; PATIENT; CANCER;

D O I：

10.1053/j.seminhematol.2021.10.001

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Systemic autoinflammatory disorders (SAIDs) encompass a heterogeneous group of monogenic disorders characterized by recurrent episodes of systemic and organ-specific inflammation. Genetic studies have facilitated the identification of Mendelian forms of SAIDs but many patients still remain without a diagnosis. Recent studies have uncovered that somatic (acquired) mutations can cause later-onset SAIDs. In this review, we will discuss the current knowledge surrounding the genetics of these acquired auto inflammatory disorders (AAIDs), with a focus on VEXAS, NLRP3-associated AAIDs and Schnitzler's syndrome and provide suggestions for future research in this field. (c) 2021 Elsevier Inc. All rights reserved.

引用

页码：212 / 217

页数：6

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