AUTHOR=Debeljak M. , Blazina S. , Brecelj J. , Avčin T. , Toplak N. 

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

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 11 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1132596

DOI=10.3389/fped.2023.1132596

ISSN=2296-2360

ABSTRACT=Haploinsufficiency of A20 was first described in 2016 as a new autoinflammatory disease that clinically presents as early onset Behcet’s disease. After first publication of 16 cases, other patients were found, and the spectrum of clinical presentation has expanded.
In this short report we will present a patient with novel mutation in TNFAIP3 gene. Clinical presentation was not very typical for Haploinsufficiency A20, but he had presentation of an autoinflammatory disease with recurrent fever, abdominal pain, diarrhoea, respiratory tract infections and elevated parameters of inflammation. We will emphasise the importance of genetic testing, especially in cases that are clinically not typical for a single autoinflammatory disease.