ArticleJournal of clinical immunology2019
Novel Heterogeneous Mutation of TNFAIP3 in a Chinese Patient with Behçet-Like Phenotype and Persistent EBV Viremia.
Article in Journal of clinical immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 31 citations in OpenAlex.
- Three Chinese pedigrees of A20 haploinsufficiency: clinical, cytokine and molecular characterization.Frontiers in immunology · 2022Pooled it
- Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.Frontiers in immunology · 2021Pooled it
- Iron, Copper, and Zinc Dyshomeostasis in Cardiovascular and Cerebrovascular Diseases: Redox Mechanisms, Evidence Levels, and Translational Prospects.International journal of molecular sciences · 2026Review
- Behçet-like Syndromes: A Comprehensive Review.Dermatopathology (Basel, Switzerland) · 2026Review
- Co-Occurrence ofInternational journal of molecular sciences · 2025Article
- Atypical lymphoproliferations associated with germline genetic variants: a report of the 2024 EA4HP/SH lymphoma workshop.Virchows Archiv : an international journal of pathology · 2025Review
- Genetic Mutations Associated With TNFAIP3 (A20) Haploinsufficiency and Their Impact on Inflammatory Diseases.International journal of molecular sciences · 2024Review
- A retrospective cohort study of Epstein-Barr virus infection status and systemic lupus erythematosus.Clinical rheumatology · 2024Article
- A critical region of A20 unveiled by missenseeLife · 2023Article
- Paediatric Behçet's Disease: A Comprehensive Review with an Emphasis on Monogenic Mimics.Journal of clinical medicine · 2022Review
- Increased expression of the TLR7/9 signaling pathways in chronic active EBV infection.Frontiers in pediatrics · 2022Article
- Severe G6PD deficiency leads to recurrent infections and defects in ROS production: Case report and literature review.Frontiers in genetics · 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
- Functional analysis of novel A20 variants in patients with atypical inflammatory diseases.Arthritis research & therapy · 2021Article
- A20 Haploinsufficiency in East Asia.Frontiers in immunology · 2021Review
- A20 Haploinsufficiency Presenting with a Combined Immunodeficiency.Journal of clinical immunology · 2020Article
- Haploinsufficiency of A20 Due to Novel Mutations in TNFAIP3.Journal of clinical immunology · 2020Article
- Clinical phenotype of a Chinese patient with RIPK1 deficiency due to novel mutation.Genes & diseases · 2020Article
- The clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutations.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2020Article
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Authors and funding
15 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTumor necrosis factor alpha-induced protein 3 (TNFAIP3, A20) is a negative regulator of the nuclear factor-κB (NF-κB) pathway. It has recently been recognized that TNFAIP3 deficiency leads to early onset of autoinflammatory and autoimmune syndrome resembling Behçet's disease. Here, we report a novel mutation in TNFAIP3 in a Chinese patient, who had Behçet-like phenotype and persistent Epstein-Barr virus (EBV) viremia.
methodsThe clinical data were collected. Immunological function was detected. Gene mutation was detected by whole-exome sequencing (WES) and confirmed by Sanger sequencing. mRNA and protein levels were detected in the patient under lipopolysaccharide (LPS) stimulation by real-time PCR and Western blot.
resultsThe patient is a 13-year-old boy, presenting with intermittent fever for 5 months, who also experienced diffuse lymphadenopathy, arthritis, and recurrent multiple gastrointestinal ulcers. EBV DNA was detected in the serum and peripheral blood mononuclear cells of the patient. The immunological phenotype showed increased proportion of double-negative T cells (CD3+CD4-CD8-). A novel missense mutation (c.1428G > A) locating at the zinc fingers 2 (ZF2) domain of TNFAIP3 inherited from his mother was confirmed. Compared with age-matched healthy controls, decrease expression of A20 was observed in the patient. The NF-κB pathway was found to be overactivated, and the synthesis of TNF-α was upregulated in the patient-derived cells. However, cells from the mother showed a milder response to LPS than cells from the patient.
conclusionsThe present research indicated that the TNFAIP3 mutation of c.1428G > A (p.M476I) leads to the reduced suppression of NF-κB activation and accounted for the autoinflammatory phenotype and persistent EBV viremia in the patient.
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