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Article

A new CECR1 mutation associated with severe hematological involvement in ADA2 deficiency.

Immunity, inflammation and disease - 1 Aug 2023

Nicoară Delia, Niță Cristina, Stanilă Ana, Martiniuc Alexandru, Popa Laura, Petrescu Eliana, Bătăneant Mihaela, Ciofu Ruxandra, Guriță Adriana, Tabăcaru Radu, Ionescu Ruxandra, Groșeanu Laura

Abstract excerpt

BACKGROUND: The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease resulting from loss-of-function mutations in ADA2, formerly named CECR1 (cat eye syndrome chromosome region, candidate 1) gene. Disease manifestations could be separated into three major phenotypes: inflammatory/vascular, immune dysregulatory, and hematologic; however, most patients presented with significant...

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PMID: 37647436
DOI: 10.1002/iid3.930
PMCID: PMC10443069

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