Associated Papers
Clinical characteristics and treatment strategies for A20 haploinsufficiency in Japan: a national epidemiological survey.
Shiraki M et al.
Frontiers in Immunology, 2025
Genetic Mutations Associated With TNFAIP3 (A20) Haploinsufficiency and Their Impact on Inflammatory Diseases.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2024
Pathogenic Variants Associated with Epigenetic Control and the NOTCH Pathway Are Frequent in Classic Hodgkin Lymphoma.
Santisteban-Espejo A et al.
International Journal of Molecular Sciences, 2024
A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation.
El Khouri E et al.
Elife, 2023
TNFAIP3 Reduction-of-Function Drives Female Infertility and CNS Inflammation.
Zammit NW et al.
Frontiers in Immunology, 2022
Three Chinese pedigrees of A20 haploinsufficiency: clinical, cytokine and molecular characterization.
Tian Y et al.
Frontiers in Immunology, 2022
Mutation analysis of the TNFAIP3 in A20 haploinsufficiency: A case report.
Yan M et al.
Medicine, 2021
Haploinsufficiency of A20 with a novel mutation of deletion of exons 2-3 of TNFAIP3.
Shimizu M et al.
Modern Rheumatology, 2021
Functional analysis of novel A20 variants in patients with atypical inflammatory diseases.
Kadowaki S et al.
Arthritis Research & Therapy, 2021
A20 Haploinsufficiency in East Asia.
Kadowaki T et al.
Frontiers in Immunology, 2021
Haploinsufficiency of A20 (HA20): updates on the genetics, phenotype, pathogenesis and treatment.
Yu MP et al.
World Journal of Pediatrics : Wjp, 2020
A zebrafish functional genomics model to investigate the role of human A20 variants in vivo.
Cultrone D et al.
Scientific Reports, 2020
A20 at the Crossroads of Cell Death, Inflammation, and Autoimmunity.
Martens A et al.
Cold Spring Harbor Perspectives in Biology, 2020
A20 Haploinsufficiency in a Chinese Patient With Intestinal Behcet's Disease-Like Symptoms: A Case Report.
Chen Y et al.
Frontiers in Immunology, 2020
Association of Clinical Phenotypes in Haploinsufficiency A20 (HA20) With Disrupted Domains of A20.
Chen Y et al.
Frontiers in Immunology, 2020
Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity.
Zammit NW et al.
Nature Immunology, 2019
Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease.
Tsuchida N et al.
Arthritis Research & Therapy, 2019
Role of deleterious single nucleotide variants in the coding regions of TNFAIP3 for Japanese autoimmune hepatitis with cirrhosis.
Higuchi T et al.
Scientific Reports, 2019
Novel Heterogeneous Mutation of TNFAIP3 in a Chinese Patient with Behçet-Like Phenotype and Persistent EBV Viremia.
Dong X et al.
Journal of Clinical Immunology, 2019
Infantile Onset Intractable Inflammatory Bowel Disease Due to Novel Heterozygous Mutations in TNFAIP3 (A20).
Zheng C et al.
Inflammatory Bowel Diseases, 2018
Autosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literature.
Berteau F et al.
Autoimmunity Reviews, 2018
TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.
Franco-Jarava C et al.
Clinical Immunology (orlando, Fla.), 2018
Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders.
Kadowaki T et al.
The Journal of Allergy and Clinical Immunology, 2018
Immune Regulatory Genes Are Major Genetic Factors to Behcet Disease: Systematic Review.
Deng Y et al.
The Open Rheumatology Journal, 2018
Early diagnosis of early-onset sarcoidosis: a case report with functional analysis and review of the literature.
Takeuchi Y et al.
Clinical Rheumatology, 2017
Novel heterozygous C243Y A20/TNFAIP3 gene mutation is responsible for chronic inflammation in autosomal-dominant Behçet's disease.
Shigemura T et al.
Rmd Open, 2016
Haploinsufficiency of A20 caused by a novel pathogenic missense variant of TNFAIP3 and successfully treated with anti-TNF and immunosuppressive therapies.
Lina S et al.
Cellular Immunology, 0