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

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

来  源：   DOI：10.3389/fimmu.2021.629457   PDF(Pubmed)

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.
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