Haploinsufficiency of A20 (HA20): updates on the genetics, phenotype, pathogenesis and treatment.

CONCLUSIONS: HA20 is a monogenic autoinflammatory disease with highly variable clinical manifestations. This extensive heterogeneity makes it difficult to set a clinical diagnostic criteria, and genetic sequencing is necessary for a definitive diagnosis of HA20.
PMID: 31587140 [PubMed - as supplied by publisher]

Source: World Journal of Pediatrics : WJP - October 4, 2019 Category: Pediatrics Authors: Yu MP, Xu XS, Zhou Q, Deuitch N, Lu MP Tags: World J Pediatr Source Type: research