A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1).
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V. Lougaris | A. Plebani | B. Grimbacher | V. Villanacci | F. Cardinale | D. Moratto | M. Baronio | M. Bondioni | F. Lanzarotto | B. Martire | L. Gazzurelli | G. Tampella | M. Facchetti