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Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2

Deficiency of adenosine deaminase 2 (DADA2) is a monogenic form of systemic vasculopathy that often presents during early childhood. Linked to biallelic mutations in ADA2 (previously CECR1), DADA2 was initially described as a syndrome of recurrent fever, livedo racemosa, early-onset strokes, and per...

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Bibliografische gegevens
Hoofdauteur: Pui Y. Lee
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Frontiers Media S.A. 2018-10-01
Reeks:Frontiers in Pediatrics
Onderwerpen:
Online toegang:https://www.frontiersin.org/article/10.3389/fped.2018.00282/full
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