Article
A single center experience on PI3K/AKT/MTOR signaling defects: Towards pathogenicity assessment for four novel defects.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 1 Sept 2024
Bildik Hacer Neslihan, Esenboga Saliha, Halaclı Sevil Oskay, Karaatmaca Betül, Aytekin Elif Soyak, Nabiyeva Nadira, Akarsu Ayşegul, Ocak Melike, Erman Baran, Tan Cagman, Arikoglu Tugba, Yaz Ismail, Cicek Begum, Tezcan Ilhan, Cagdas Deniz
Abstract excerpt
BACKGROUND: Phosphoinositide 3 kinases (PI3K) are lipid kinases expressed in lymphocytes/myeloid cells. PI3K/AKT/mTOR signaling defects present with recurrent infections, autoimmunity, lymphoproliferation, and agammaglobulinemia. OBJECTIVE: To characterize the PI3K/AKT/mTOR pathway defects and perform pathway analyses to assess novel variant pathogenicity. METHODS: We included 12 patients (heterozygous PIK3CD...
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