Sudden Dizziness, Somnolence and Diplopia : Chapter 111

• Deficiency of adenosine deaminase 2 (DADA2) is a autosomal recessive disease caused by mutations in CECR1 Mutations in CECR1 cause a deficiency of the enzyme adenosine deaminase type 2 (ADA2) DADA2 phenotype has a wide spectrum and is characterized by the presence of three main features: (1) vascular inflammation, (2) immunodeficiency, and (3) coagulopathy, that may or may not overlap in the individual patient The vascular-inflammatory manifestations include livedo reticularis/racemosa, stroke, vasculitis, recurrent fever episodes and increased inflammatory markers The risk for stroke is high in DADA2 The phenotype may be almost indistinguishable to polyarteritis nodosa (PAN) TNF-blockade is an effective treatment for the vasculitis and inflammatory manifestations Patients with severe disease especially with hematological manifestations and immunodeficiency may benefit from HSCT

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MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Pediatrik (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Pediatrics (hsv//eng)

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