AUTHOR=Shaheen Zachary R. , Williams Sarah J. A. , Binstadt Bryce A. TITLE=Case Report: A Novel TNFAIP3 Mutation Causing Haploinsufficiency of A20 With a Lupus-Like Phenotype JOURNAL=Frontiers in Immunology VOLUME=12 YEAR=2021 URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2021.629457 DOI=10.3389/fimmu.2021.629457 ISSN=1664-3224 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.