Abstract
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.
Highlights
Adenosine desaminase 2 deficiency (DADA2) is a rare monogenic autoinflammatory disease, presenting with systemic inflammation, vascular pathology with possible strokes, and mild immunodeficiency
the CECR1 gene was found to be responsible for this disease with an autosomal recessive inheritance
Her 7-year old sister presented with fever
Summary
Adenosine desaminase 2 deficiency (DADA2) is a rare monogenic autoinflammatory disease, presenting with systemic inflammation, vascular pathology with possible strokes, and mild immunodeficiency. The CECR1 gene was found to be responsible for this disease with an autosomal recessive inheritance
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