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

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

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 m...

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Bibliographic Details
Main Authors: Zachary R. Shaheen, Sarah J. A. Williams, Bryce A. Binstadt
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-02-01
Series:Frontiers in Immunology
Subjects:
A20
haploinsufficiency of A20
tumor necrosis factor alpha-induced protein 3
lupus
lymphadenopathy
hypogammaglobulinemia
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2021.629457/full
Description
Summary: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.
ISSN:1664-3224

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