Article
Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 1 Sept 2016
Olbrich Peter, Lorenz Myriam, Cura Daball Paola, Lucena José Manuel, Rensing-Ehl Anne, Sanchez Berta, Führer Marita, Camacho-Lovillo Marisol, Melon Marta, Schwarz Klaus, Neth Olaf, Speckmann Carsten
Abstract excerpt
BACKGROUND: Autosomal dominant gain-of-function mutations in PIK3R1 encoding for the regulatory subunit (p85α, p55α, and p50α) of Class IA phosphoinositide 3-kinase (PI3K) result in the activated PI3Kδ syndrome (APDS) type 2 characterized by childhood-onset combined immunodeficiency, lymphoproliferation, and immune dysregulation. To improve clinical awareness and understanding of these rare diseases, we reviewed...
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