SynthesisFrontiers in immunology2022
Three Chinese pedigrees of A20 haploinsufficiency: clinical, cytokine and molecular characterization.
Synthesis in Frontiers in immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 14 citations in OpenAlex.
- How I Treat: Haploinsufficiency of A20.Journal of human immunity · 2026Review
- Article
- Five children with haploinsufficiency of A20 caused by heterozygous mutations in theFrontiers in immunology · 2026Article
- Case Report: Exploring the spectrum of A20 haploinsufficiency in children.Frontiers in pediatrics · 2025Article
- The research potential of A20 in psoriatic arthritis.Frontiers in immunology · 2025Review
- 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
- Expanding clinical characteristics and genotypic profiling of Yao syndrome in Chinese patients.Frontiers in immunology · 2024Article
- A critical region of A20 unveiled by missenseeLife · 2023Article
- Autoinflammatory manifestations in adult patients.Clinical and experimental immunology · 2022Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: Haploinsufficiency of A20 (HA20) is a newly described rare autoinflammatory disease caused by Methods: Eight Chinese Han patients were diagnosed with HA20 in our department from 2018 to 2021. Their clinical data and genotypes were carefully documented and studied. The newly identified variants were functionally verified. We also conducted a systematic literature review of HA20, and the clinical characteristics and genotype of HA20 between the Chinese population and other populations were compared. Results: Eight HA20 patients from three families comprised six adults and two children. There was one man and seven women. The clinical characteristics included recurrent oral ulcers (8/8, 100%), fever (4/8, 50%), perianal ulcer (3/8, 38%), skin lesions (2/8, 25%), arthritis (1/8, 13%), and uveitis (1/8, 13%). Three Conclusion: The rarity and diversity of phenotypes make the diagnosis of HA20 a huge challenge to physicians. HA20 should be considered in child-onset patients with manifestations that resemble Behçet's syndrome, especially those whose family members have similar symptoms. Gene testing is critically helpful for the diagnosis of HA20. Two novel
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.