Identification of three ADA2 deficiency families with novel CECR1 mutations
2015
Adenosine desaminase 2 deficiency (DADA2) is a rare monogenic autoinflammatory disease, presenting with systemic inflammation, vascular pathology with possible strokes, and mild immunodeficiency. Recently, the CECR1 gene was found to be responsible for this disease with an autosomal recessive inheritance.
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