ArticleBMC medical genetics2019
Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report.
Article in BMC medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Three Chinese pedigrees of A20 haploinsufficiency: clinical, cytokine and molecular characterization.Frontiers in immunology · 2022Pooled it
- Tackling the diagnosis of HA20 in children: challenges of a highly variable clinical and genetic spectrum.RMD open · 2026Article
- Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.Molecular medicine (Cambridge, Mass.) · 2026Review
- Five children with haploinsufficiency of A20 caused by heterozygous mutations in theFrontiers in immunology · 2026Article
- Clinical characteristics and treatment strategies for A20 haploinsufficiency in Japan: a national epidemiological survey.Frontiers in immunology · 2025Article
- Primary immunodeficiency as a cause of immune-mediated kidney diseases.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2024Review
- Genetic Mutations Associated With TNFAIP3 (A20) Haploinsufficiency and Their Impact on Inflammatory Diseases.International journal of molecular sciences · 2024Review
- Lupus Nephritis Biomarkers: A Critical Review.International journal of molecular sciences · 2024Review
- Case report: Adult case of A20 haploinsufficiency suspected as neuro-Behçet disease.Frontiers in immunology · 2024Article
- Kidney Involvement in Autoinflammatory Diseases.Kidney diseases (Basel, Switzerland) · 2023Review
- Vasculitis and vasculopathy associated with inborn errors of immunity: an overview.Frontiers in pediatrics · 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
- Clinical characteristics and genetic analysis of A20 haploinsufficiency.Pediatric rheumatology online journal · 2021Article
- Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion.Human genome variation · 2021Article
- A20 Haploinsufficiency in East Asia.Frontiers in immunology · 2021Review
- Haploinsufficiency of A20 Due to Novel Mutations in TNFAIP3.Journal of clinical immunology · 2020Article
- The genetics of macrophage activation syndrome.Genes and immunity · 2020Review
- Genetic heterogeneity of pediatric systemic lupus erythematosus with lymphoproliferation.Medicine · 2020Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe association between mutations in the TNFAIP3 gene and a new autoinflammatory disease (called A20 haploinsufficiency, HA20) has recently been recognized. Here, we describe four patients with HA20 from two unrelated Chinese families. CASE PRESENTATION: A total of four patients from two families were included. The average age at onset was 5.9 years. All patients had no signs of eye or skin problems, such as uveitis, rash, folliculitis and dermal abscess. Prior to the recognition of HA20, P1 was diagnosed with SLE, liver fibrosis and hypothyroidism. She also had no oral, genital or perineal ulcers. P2 was diagnosed with Crohn's disease and inflammatory bowel disease-related arthritis (IBD-RA). He had a perianal abscess but no oral or genital ulcers. P3, the father of P1 and P2, only had mild oral ulcers, arthralgia, and archosyrinx. P4 was diagnosed with polyarticular juvenile idiopathic arthritis (JIA), macrophage activation syndrome (MAS) and interstitial lung disease (ILD). Whole exome sequencing (WES) was performed in two families. WES revealed heterozygous c.559C > T in the TNFAIP3 gene in P1, P2 and P3, while the c.259C > T mutation in the TNFAIP3 gene was identified in P4. The c.259C > T mutations is novel.
conclusionHA20 had a different phenotype between families and even between family members with the same mutation. Liver fibrosis, hypothyroidism, ILD and MAS in the patients with HA20 were first reported in this study. Our results expanded the phenotype and genotype spectrum of A20 haploinsufficiency.
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