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

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...

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Bibliographic Details
Main Authors: M. Debeljak, S. Blazina, J. Brecelj, T. Avčin, N. Toplak
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Pediatrics
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1132596/full