ArticleClinical kidney journal2022
Novel loss-of-function mutations in
Article in Clinical kidney journal, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Assessment of the prevalence of neurological involvement in a pediatric cohort of children with lupus nephritis: retrospective multicenter study.Pediatric nephrology (Berlin, Germany) · 2026Article
- TLR7 in systemic lupus erythematosus: genetics and emerging therapies.Nature reviews. Rheumatology · 2026Review
- Article
- [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
- Article
- Ras-MAPK pathway in patients with lupus nephritis.Lupus science & medicine · 2025Article
- Article
- 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
- A20 in Kidney Transplantation and Autoimmunity.International journal of molecular sciences · 2024Review
- The Complexity of Being A20: From Biological Functions to Genetic Associations.Journal of clinical immunology · 2024Review
- Lupus Nephritis Biomarkers: A Critical Review.International journal of molecular sciences · 2024Review
- Genetics of SLE: mechanistic insights from monogenic disease and disease-associated variants.Nature reviews. Nephrology · 2023Review
- Kidney Involvement in Autoinflammatory Diseases.Kidney diseases (Basel, Switzerland) · 2023Review
- Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition.Frontiers in immunology · 2023Article
- Gain-of-functionClinical kidney journal · 2022Article
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Heterozygous loss-of-function mutations in the tumour necrosis factor alpha induced protein 3 ( Methods: Whole-exome sequencing (WES) was used to identify the causative mutations in three biopsy-proven LN patients. Sanger sequencing and quantitative polymerase chain reaction (qPCR) were used to validate the mutations identified by WES. RNA sequencing, qPCR and cytometric bead array was used to detect inflammatory signatures in the patients. Results: The patients predominantly presented with an autoimmune phenotype, including autoimmune haemolytic anaemia, multipositive autoantibodies and LN. Additionally, novel phenotypes of allergy and pericardial effusion were first reported. WES identified three novel heterozygous mutations in the Conclusions: Kidney involvement may be the main feature of the clinical spectrum of HA20, even in adults. Genetic screening should be considered for early-onset LN patients.
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