ArticleOrphanet journal of rare diseases2025
Clinical features and genetic analysis of A20 haploinsufficiency.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- The ubiquitin-editing enzyme A20 (TNFAIP3): mechanisms of activation, biological function, diseases and therapeutic targets.Molecular biomedicine · 2026Review
- How I Treat: Haploinsufficiency of A20.Journal of human immunity · 2026Review
- [Haploinsufficiency of A20 in a family caused by a heterozygous deletion in theZhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2026Article
- Five children with haploinsufficiency of A20 caused by heterozygous mutations in theFrontiers in immunology · 2026Article
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Authors and funding
8 authors.
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Abstract
objectiveTo described clinical and genetic characteristics of 4 patients presenting A20 haploinsufficiency (HA20) treated at Children's hospital affiliated to Zhengzhou university from 2015 to 2024.
methodsA retrospective analysis was conducted on the clinical data, genetic testing results, and treatment outcomes of four children with HA20 treated at the Children's hospital affiliated to Zhengzhou university from 2015 to 2024.
resultsAll four patients developed symptoms before the age of 1 year, presenting with recurrent fever and abdominal pain with diarrhea. Most common characteristics were hematochezia, bipolar aphthosis, arthritis, skin eruption in 50% of patients. Lab tests revealed elevated inflammatory markers; all patients had anemia. Imaging showed intestinal mucosal edema, hip/knee joint effusions, and lymphadenopathy in one case. Endoscopy revealed gastrointestinal aphthosis in 100% of cases. Genetic testing identified TNFAIP3 mutations in all four patients, including one novel whole-gene deletion (6q23.3chr6:136700000-138880000), 2 novel pathogenic mutations (c.866delA, c.1243_1247del), and one previously reported mutation (c.133C > T). Treatment included exclusive enteral nutrition (EEN) and thalidomide for all patients. One patient was switched to infliximab (IFX) combined with azathioprine due to gastrointestinal side effects, and one patient received methylprednisolone during acute phase. Follow-up for 4-10 years showed that 1 patient had improved symptoms with IFX and azathioprine but still had intermittent fever and perianal aphthosis; While one patient demonstrated poor response to EEN-thalidomide therapy requiring regimen change, the other responded well. One patient exhibited normalized gastrointestinal function following EEN-thalidomide therapy, yet still required repeated hospitalizations for recurrent infections with progressively prolonged inter-episode intervals.
conclusionHA20 has strong clinical heterogeneity, and genetic testing is crucial for diagnosis and guiding treatment. Early diagnosis and individualized treatment can improve prognosis.
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