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

doi:10.3389/fimmu.2021.629457

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

Front Immunol. 2021 Feb 19:12:629457. doi: 10.3389/fimmu.2021.629457. eCollection 2021.

Authors

Zachary R Shaheen¹, Sarah J A Williams², Bryce A Binstadt¹

Affiliations

¹ Division of Rheumatology, Allergy & Immunology, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, United States.
² Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, MN, United States.

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.

Keywords: A20; case report; haploinsufficiency of A20; hypogammaglobulinemia; lupus; lymphadenopathy; tumor necrosis factor alpha-induced protein 3.

Publication types

Case Reports

MeSH terms

Adolescent
Agammaglobulinemia / diagnosis
Agammaglobulinemia / drug therapy
Agammaglobulinemia / genetics*
Agammaglobulinemia / immunology
DNA Mutational Analysis
Diagnosis, Differential
Female
Genetic Predisposition to Disease
Glucocorticoids / therapeutic use
Haploinsufficiency*
Hereditary Autoinflammatory Diseases / diagnosis
Hereditary Autoinflammatory Diseases / drug therapy
Hereditary Autoinflammatory Diseases / genetics*
Hereditary Autoinflammatory Diseases / immunology
Heredity
Humans
Immunosuppressive Agents / therapeutic use
Loss of Function Mutation*
Lupus Erythematosus, Systemic / diagnosis
Lupus Erythematosus, Systemic / genetics*
Lupus Erythematosus, Systemic / immunology
Lymphadenopathy / diagnosis
Lymphadenopathy / drug therapy
Lymphadenopathy / genetics*
Lymphadenopathy / immunology
Pedigree
Phenotype
Predictive Value of Tests
Treatment Outcome
Tumor Necrosis Factor alpha-Induced Protein 3 / genetics*

Substances

Glucocorticoids
Immunosuppressive Agents
TNFAIP3 protein, human
Tumor Necrosis Factor alpha-Induced Protein 3