Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2

Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2

Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder caused by mutations in CECR1 (cat eye syndrome chromosome region, canditate 1) gene, which encodes the enzyme adenosine deaminase 2 necessary for endothelial cell survival and function. The diversity of...

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Bibliographic Details
Main Authors: Mustafa Çakan, Nuray Aktay-Ayaz, Şerife Gül Karadağ, Eda Tahir-Turanlı, Kelsey Stafstrom, Wayne Bainter, Raif S Geha, Janet Chou
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2019-06-01
Series:The Turkish Journal of Pediatrics
Subjects:
amaurosis fugax
deficiency of adenosine deaminase 2
stroke
vasculitis
Online Access:https://turkjpediatr.org/article/view/710
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