Haploinsufficiency of A20 (HA20): updates on the genetics, phenotype, pathogenesis and treatment
作者机构：Department of Rheumatology Immunology and Allergy.Children's HospitalZhejiang University School of MedicineHangzhou 310052China MOE Key Laboratory of Biosystems Homeostasis&ProtectionLife Sciences Institute.Zhejiang UniversityHangzhouChina Genetics DepartmentStanford UniversityCaliforniaUSA
出 版 物：《World Journal of Pediatrics》 (世界儿科杂志（英文版）)
年 卷 期：2020年第16卷第6期
页 面：575-584页
核心收录：
学科分类：1002[医学-临床医学] 100202[医学-儿科学] 10[医学]
基 金：This study was supported by Basic Public Welfare Research Project of Zhejiang Province(LGF19H100002)
主 题：Autoinflammatory disease HA20 NF-κB signaling TNFAIP3 Treatment
摘 要：Background A20,a protein encoded by the tumor necrosis factor alpha-induced protein 3 gene(TNFAIP3),plays a vital role in the negative regulation of inflammation and ***-of-function mutation in TNFAIP3 leads to a new described autoinflammatory disease-haploinsufficiency of A20(HA20).Since HA20 was first described in 2016,a number of new cases have been described in this literature,however,the disease and its pathogenesis are poorly *** review seeks to improve clinical recognition of this disorder,and promote both earlier diagnosis and initiation of targeted therapies to improve patients’*** We reviewed 26 papers about A20 and HA20,and we summarized genetic variants and clinical manifestations of a total of 61 reported patients from 26 families identified to have a genetic diagnosis of germline pathogenic variants in TNFAIP3/***,we discussed the pathogenesis and treatment of *** A total of 24 pathogenic variants of A20 had been *** was significant clinical heterogeneity,even among those with the same variants in *** to receiving a molecular diagnosis of HA20,patients had been diagnosed with Behcet s disease,rheumatoid arthritis,rheumatic fever,juvenile idiopathic arthritis,systemic lupus erythematosus,and even adult-onset Stills *** patients with HA20 that presented with inflammatory signatures in NF-kB signaling were mostly responsive to *** HA20 is a monogenic autoinflammatory disease with highly variable clinical *** extensive heterogeneity makes it difficult to set a clinical diagnostic criteria,and genetic sequencing is necessary for a definitive diagnosis of HA20.
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