Dec 19, 2024 · Haploinsufficiency of A20 (HA20), a complex immune dysregulation disease, is characterized by recurrent systemic immune dysfunction (i.e., inflammation and/or immune deficiency).

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Objectives: The association between mutations in TNFAIP3, encoding the NF-kB regulatory protein A20, and a new autoinflammatory disease has recently been recognised. This study aims at describing the clinical phenotypes and disease course of …

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 immunity. Loss-of-function mutation in TNFAIP3 leads to a new described autoinflammatory disease-haploinsufficiency of A20 (HA20).

A20 Haploinsufficiency (HA20) is a monogenic autoinflammatory disease associated with an autosomal dominant mutation in the TNFAIP3 gene. It induces a defect in the inactivation of the pro-inflammatory NF-κB pathway. Less than 200 cases have been described worldwide.

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Dec 19, 2023 · A20 haploinsufficiency (HA20) is an inborn error of immunity caused by heterozygous loss-of-function variants in the highly conserved gene TNFAIP3, which encodes the protein A20 (Yu et al, 2020).

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Jul 15, 2020 · A20, encoded by TNFAIP3, is an ubiquitin-editing enzyme that plays a key role in the negative regulation of inflammation and immune responses. A deficiency of A20 leads to increased NF-κB and mitogen-activated protein kinase (MAPK) signaling and uncontrolled NLRP3 inflammasome activation.

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