Haploinsufficiency of A20 Due to Novel Mutations in TNFAIP3
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DOI: 10.1007/s10875-020-00792-9
Abstract: Haploinsufficiency of A20 (HA20) is a newly described immune dysregulation disease due to the loss-of-function mutation in TNFAIP3. In the present study, we report six patients from four unrelated Chinese families with distinct pathogenic mutations… read more here.
Keywords: a20 due; due novel; a20; haploinsufficiency a20 ... See more keywords
Haploinsufficiency of A20 impairs protein–protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation
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DOI: 10.1136/rmdopen-2018-000740
Abstract: Objectives TNFAIP3 encodes A20 that negatively regulates nuclear factor kappa light chain enhancer of activated B cells (NF-κB), the major transcription factor coordinating inflammatory gene expression. TNFAIP3 polymorphisms have been linked with a spectrum of… read more here.
Keywords: inflammasome activation; protein protein; a20; haploinsufficiency a20 ... See more keywords
Dysregulation of the Intestinal Microbiome in Patients With Haploinsufficiency of A20
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DOI: 10.3389/fcimb.2021.787667
Abstract: Introduction Haploinsufficiency of A20 (HA20) is a form of inborn errors of immunity (IEI). IEIs are genetically occurring diseases, some of which cause intestinal dysbiosis. Due to the dysregulation of regulatory T cells (Tregs) observed… read more here.
Keywords: haploinsufficiency a20; family members; composition; dysregulation ... See more keywords