ReviewWorld journal of pediatrics : WJP2020
Haploinsufficiency of A20 (HA20): updates on the genetics, phenotype, pathogenesis and treatment.
Review in World journal of pediatrics : WJP, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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Who cites it
49 citing papers in PubMed, 76 citations in OpenAlex.
- A multi-composite disease activity score (NFKB1-DAS) for NFKB1 insufficiency.Journal of clinical immunology · 2026Article
- The ubiquitin-editing enzyme A20 (TNFAIP3): mechanisms of activation, biological function, diseases and therapeutic targets.Molecular biomedicine · 2026Review
- Landscape of Somatic Mutations in a Large Cohort of Chinese Patients With Immune Dysregulations.Arthritis & rheumatology (Hoboken, N.J.) · 2026Article
- Article
- Clinical Phenotypes and Genetic Findings in Very-Early-Onset Inflammatory Bowel Disease: A Vietnamese Pediatric Cohort Study.Children (Basel, Switzerland) · 2026Article
- Tackling the diagnosis of HA20 in children: challenges of a highly variable clinical and genetic spectrum.RMD open · 2026Article
- Case Report: A case of haploinsufficiency of A20 in a newborn with abnormal liver enzymes at disease onset.Frontiers in pediatrics · 2026Article
- Mechanisms outpacing medicine in autoinflammatory diseases.Frontiers in immunology · 2026Review
- Five children with haploinsufficiency of A20 caused by heterozygous mutations in theFrontiers in immunology · 2026Article
- Infantile Onset Haploinsufficiency of A20 Treated by Infliximab, a Case Report and Brief Review of Literature.International medical case reports journal · 2026Article
- Video capsule endoscopy in very early onset inflammatory bowel disease: a multicenter retrospective study from the Chinese Pediatric VCE Study Group.Translational gastroenterology and hepatology · 2026Article
- Characterisation and diagnostic model of monogenic lupus.Immunologic research · 2025Article
- Pediatric Systemic Autoinflammatory Disorders: An Overview.Current allergy and asthma reports · 2025Review
- Case Report: Exploring the spectrum of A20 haploinsufficiency in children.Frontiers in pediatrics · 2025Article
- A20 intrinsically influences human effector T-cell survival and function by regulating both NF-κB and JNK signaling.European journal of immunology · 2024Article
- [Update on Behçet syndrome].Zeitschrift fur Rheumatologie · 2024Review
- Inflammatory turmoil within: an exploration of autoinflammatory disease genetic underpinnings, clinical presentations, and therapeutic approaches.Advances in rheumatology (London, England) · 2024Review
- Genetic Mutations Associated With TNFAIP3 (A20) Haploinsufficiency and Their Impact on Inflammatory Diseases.International journal of molecular sciences · 2024Review
- Sequential immunotherapy: towards cures for autoimmunity.Nature reviews. Drug discovery · 2024Review
- Identification of potential drug targets for allergic diseases from a genetic perspective: A mendelian randomization study.Clinical and translational allergy · 2024Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundA20, a protein encoded by the tumor necrosis factor alpha-induced protein 3 gene (TNFAIP3), plays a vital role in the negative regulation of inflammation and immunity. Loss-of-function mutation in TNFAIP3 leads to a new described autoinflammatory disease-haploinsufficiency of A20 (HA20). Since HA20 was first described in 2016, a number of new cases have been described in this literature, however, the disease and its pathogenesis are poorly understood. This review seeks to improve clinical recognition of this disorder, and promote both earlier diagnosis and initiation of targeted therapies to improve patients' outcomes.
methodsWe reviewed 26 papers about A20 and HA20, and we summarized genetic variants and clinical manifestations of a total of 61 reported patients from 26 families identified to have a genetic diagnosis of germline pathogenic variants in TNFAIP3/A20. Additionally, we discussed the pathogenesis and treatment of HA20.
resultsA total of 24 pathogenic variants of A20 had been reported. There was significant clinical heterogeneity, even among those with the same variants in TNFAIP3. Prior to receiving a molecular diagnosis of HA20, patients had been diagnosed with Behcet's disease, rheumatoid arthritis, rheumatic fever, juvenile idiopathic arthritis, systemic lupus erythematosus, and even adult-onset Stills' disease. The patients with HA20 that presented with inflammatory signatures in NF-κB signaling were mostly responsive to treatment.
conclusionsHA20 is a monogenic autoinflammatory disease with highly variable clinical manifestations. This extensive heterogeneity makes it difficult to set a clinical diagnostic criteria, and genetic sequencing is necessary for a definitive diagnosis of HA20.
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