Article

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

2022-11-09

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: 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, m...

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Literature Corpus work: c26c87ad-3d0d-520c-8b38-6f06b27c9c35
DOI: 10.21203/rs.3.rs-2111441/v1

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