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Τρίτη 14 Νοεμβρίου 2017

P271 Experience with two patients with activated PI3K delta syndrome: case reports

Activated Phosphoinositide-3 Kinase (PI3k) delta syndrome (APDS) is a combined immunodeficiency caused by gain of function mutations in PIK3 protein or receptor. We present two patients with APDS, one protein (APDS1) and one receptor mutation (APDS2).

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