Case Report: A Novel TNFAIP3 Mutation Causing Haploinsufficiency of A20 With a Lupus-Like Phenotype

Zachary R. Shaheen, Sarah J.A. Williams, Bryce A. Binstadt

Research output: Contribution to journalArticlepeer-review

Abstract

Genetic mutations that result in loss-of-function of the protein A20 result in an early-onset autoinflammatory disease—haploinsufficiency of A20 (HA20). The reported clinical presentations of HA20 include a Behcet’s disease-like phenotype and a more lupus-like phenotype. We have identified a novel mutation in the gene encoding A20 in a pediatric patient with chronic lymphadenopathy, lupus-like symptoms, and progressive hypogammaglobulinemia. This case illustrates the wide range of clinical symptoms, including immunodeficiency, that can occur in patients with HA20.

Original languageEnglish (US)
Article number629457
JournalFrontiers in immunology
Volume12
DOIs
StatePublished - Feb 19 2021

Bibliographical note

Publisher Copyright:
© Copyright © 2021 Shaheen, Williams and Binstadt.

Keywords

  • A20
  • case report
  • haploinsufficiency of A20
  • hypogammaglobulinemia
  • lupus
  • lymphadenopathy
  • tumor necrosis factor alpha-induced protein 3

PubMed: MeSH publication types

  • Case Reports

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