Novel Heterogeneous Mutation of TNFAIP3 in a Chinese Patient with Behçet-Like Phenotype and Persistent EBV Viremia

Journal of Clinical Immunology
Xiaolong DongXiaochuan Wang

Abstract

Tumor 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. The 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. The 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 ag...Continue Reading

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Citations

Sep 19, 2020·Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology·Li LinXiaochuan Wang
Jun 10, 2020·Journal of Clinical Immunology·Tingyan HeJun Yang
Jul 18, 2020·Journal of Leukocyte Biology·Oskar Schnappauf, Ivona Aksentijevich
Jul 16, 2020·Journal of Clinical Immunology·Melissa D GansArye Rubinstein
Sep 6, 2020·Scandinavian Journal of Immunology·Sandro F PerazzioMikko R J Seppänen
Feb 8, 2021·Arthritis Research & Therapy·Saori KadowakiHidenori Ohnishi

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Methods Mentioned

BETA
flow cytometry
Gel Filtration
FCS
PCR

Software Mentioned

FACSDiva
SPSS
NextGENe

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