ArticleFrontiers in immunology2021
Case Report: A Novel TNFAIP3 Mutation Causing Haploinsufficiency of A20 With a Lupus-Like Phenotype.
Article in Frontiers in immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 21 citations in OpenAlex.
- Limitations of EBV transformed human Raji B cells as a model for measuring canonical NF-κB activation.bioRxiv : the preprint server for biology · 2026Article
- Identification of genetic variants in B cell expressed genes associated with systemic lupus erythematosus in African American females.ImmunoHorizons · 2026Article
- Tackling the diagnosis of HA20 in children: challenges of a highly variable clinical and genetic spectrum.RMD open · 2026Article
- Five children with haploinsufficiency of A20 caused by heterozygous mutations in theFrontiers in immunology · 2026Article
- Clinical features and genetic analysis of A20 haploinsufficiency.Orphanet journal of rare diseases · 2025Article
- A novel missense variant in TNFAIP3 associated with autoimmunity reveals the contribution of STAT1/mTOR pathways.Clinical and experimental immunology · 2025Article
- Clinical characteristics and treatment strategies for A20 haploinsufficiency in Japan: a national epidemiological survey.Frontiers in immunology · 2025Article
- Using T-Cell Subsets to Better Characterize Immunoresiliency and Immunodeficiency in Patients with Recurrent Infections.Infectious disease reports · 2024Article
- Genetic Mutations Associated With TNFAIP3 (A20) Haploinsufficiency and Their Impact on Inflammatory Diseases.International journal of molecular sciences · 2024Review
- Case report: Adult case of A20 haploinsufficiency suspected as neuro-Behçet disease.Frontiers in immunology · 2024Article
- Uveitis Associated with Monogenic Autoinflammatory Syndromes in Children.Ocular immunology and inflammation · 2023Review
- Novel loss-of-function mutations inClinical kidney journal · 2022Article
- TNFAIP3 mutation causing haploinsufficiency of A20 with a hemophagocytic lymphohistiocytosis phenotype: a report of two cases.Pediatric rheumatology online journal · 2022Article
- Haploinsufficiency of A20 in a Chinese child caused by loss-of-function mutations in TNFAIP3: A case report and review of the literature.Frontiers in pediatrics · 2022Article
- Polygenic autoimmune disease risk alleles impacting B cell tolerance act in concert across shared molecular networks in mouse and in humans.Frontiers in immunology · 2022Review
- Identification of a Novel Mutation inFrontiers in immunology · 2022Article
- A20 Haploinsufficiency in East Asia.Frontiers in immunology · 2021Review
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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