A20 haploinsufficiency in a neonate caused by a large deletion on chromosome 6q

Abstract Haploinsufficiency of A20 (HA20) is a rare monogenic disease caused by heterozygous loss-of-function mutations in the tumor necrosis factor alpha-induced protein 3 (TNFAIP3) gene located on chromosome 6q23.3. The majority of disease-causing mutations in most cases of HA20 comprise single nu...

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Bibliographic Details

Published in:	Pediatric Rheumatology Online Journal
Main Authors:	Fan Zhang, Liang Zhang
Format:	Article
Language:	English
Published:	BMC 2024-01-01
Subjects:	A20 haploinsufficiency Chromosome deletion Autoinflammatory Neonate
Online Access:	https://doi.org/10.1186/s12969-023-00947-z