
Haploinsufficiency of A20 - GeneReviews® - NCBI Bookshelf
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 …
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A20 haploinsufficiency (HA20): clinical phenotypes and disease ... - PubMed
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 …
Haploinsufficiency of A20 (HA20): updates on the genetics ... - PubMed
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 …
[A20 haploinsufficiency: what do clinicians need to know?]
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 …
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A20 Haploinsufficiency: A Systematic Review of 177 Cases
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 …
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A20 Haploinsufficiency Presenting with a Combined …
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 …
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