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.
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© Copyright © 2021 Shaheen, Williams and Binstadt.
- case report
- haploinsufficiency of A20
- tumor necrosis factor alpha-induced protein 3
PubMed: MeSH publication types
- Case Reports