ArticleJournal of clinical immunology2020
Haploinsufficiency of A20 Due to Novel Mutations in TNFAIP3.
Article in Journal of clinical immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Three Chinese pedigrees of A20 haploinsufficiency: clinical, cytokine and molecular characterization.Frontiers in immunology · 2022Pooled it
- Limitations of EBV transformed human Raji B cells as a model for measuring canonical NF-κB activation.bioRxiv : the preprint server for biology · 2026Article
- How I Treat: Haploinsufficiency of A20.Journal of human immunity · 2026Review
- 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
- 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
- Genetic Mutations Associated With TNFAIP3 (A20) Haploinsufficiency and Their Impact on Inflammatory Diseases.International journal of molecular sciences · 2024Review
- A20 haploinsufficiency in a neonate caused by a large deletion on chromosome 6q.Pediatric rheumatology online journal · 2024Review
- Interferon autoantibodies as signals of a sick thymus.Frontiers in immunology · 2024Review
- Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Network.Ophthalmology and therapy · 2024Article
- Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases.Frontiers in ophthalmology · 2024Review
- Case report: Adult case of A20 haploinsufficiency suspected as neuro-Behçet disease.Frontiers in immunology · 2024Article
- 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
- Identification of a Novel Mutation inFrontiers in immunology · 2022Article
- A20 Haploinsufficiency in East Asia.Frontiers in immunology · 2021Review
- Case Report: A Novel TNFAIP3 Mutation Causing Haploinsufficiency of A20 With a Lupus-Like Phenotype.Frontiers in immunology · 2021Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Haploinsufficiency of A20 (HA20) is a newly described immune dysregulation disease due to the loss-of-function mutation in TNFAIP3. In the present study, we report six patients from four unrelated Chinese families with distinct pathogenic mutations in TNFAIP3, including three novel variants. All of the patients presented with early-onset autoimmune/auto-inflammatory diseases, including Crohn's disease, Behcet's disease, systemic lupus erythematosus, and unclassified auto-inflammatory syndrome. Immunological phenotype tests showed elevated levels of serum pro-inflammatory cytokines, reduced naïve B cells and TFH cells, an inverted CD4:CD8 ratio, and increased susceptibility to restimulation-induced cell death (RICD) and FASL-induced apoptosis in derived T cells. Insufficient expression of A20 was found in these patients. A20 truncated protein was detected in mutant-transfected 293T cells. Upon TNF-α stimulation, the NF-κB pathway was over-activated in both derived T cells of these patients and mutant-transfected Hela cells. In conclusion, clinical manifestations are diverse in patients with HA20, even in those with the same TNFAIP3 mutation. A20 inhibits the NF-κB pathway and plays a crucial role in the regulation of cell death. Haploinsufficiency of A20 leads to defects in both innate and adaptive immunity.
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