The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in TNFAIP3 gene

Front Pediatr. 2023 Jun 14:11:1132596. doi: 10.3389/fped.2023.1132596. eCollection 2023.

Abstract

Haploinsufficiency of A20 was first described in 2016 as a new autoinflammatory disease that clinically presents as early-onset Behcet's disease. After the publication of the first 16 cases, more patients were diagnosed and described in the literature. The spectrum of clinical presentation has expanded. In this short report, we present a patient with a novel mutation in the TNFAIP3 gene. The clinical presentation included signs of an autoinflammatory disease with recurrent fever, abdominal pain, diarrhea, respiratory tract infections, and elevated inflammatory parameters. We will emphasize the importance of genetic testing, especially in patients with various clinical signs that do not fit a single autoinflammatory disease.

Keywords: NGS genetic testing; TNFAIP3 gene; case report; clinical presentation; haploinsufficiency A20.

Publication types

  • Case Reports

Grants and funding

This work was partially supported by the University Medical Center Ljubljana Grant number 20220051.