Associated Papers
EBV-positive diffuse large B cell lymphoma secondary to activated phosphoinositide 3 kinase δ syndrome type 1 (APDS1): a case report and literature review.
Xiang QY et al.
Frontiers in Immunology, 2025
Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype.
Zhao P et al.
Pediatric Rheumatology Online Journal, 2024
Hyperactivation of the PI3K pathway in inborn errors of immunity: current understanding and therapeutic perspectives.
IJspeert H et al.
Immunotherapy Advances, 2024
Rescuing the cytolytic function of APDS1 patient T cells via TALEN-mediated PIK3CD gene correction.
Poggi L et al.
Molecular Therapy. Methods & Clinical Development, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
The First Iranian Cohort of Pediatric Patients with Activated Phosphoinositide 3-Kinase-δ (PI3Kδ) Syndrome (APDS).
Fekrvand S et al.
Immunological Investigations, 2022
Activated PI3Kinase Delta Syndrome-A Multifaceted Disease.
Thouenon R et al.
Frontiers in Pediatrics, 2021
Case Report: Intestinal Nodular Lymphoid Hyperplasia as First Manifestation of Activated PI3Kδ Syndrome Due to a Novel PIK3CD Variant.
Marzollo A et al.
Frontiers in Pediatrics, 2021
Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review.
Jamee M et al.
Clinical Reviews in Allergy & Immunology, 2020
Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ.
Swan DJ et al.
Haematologica, 2019
Immune Dysregulation and Disease Pathogenesis due to Activating Mutations in PIK3CD-the Goldilocks' Effect.
Tangye SG et al.
Journal of Clinical Immunology, 2019
Clinical and genetic analysis of immunodeficiency-related diseases associated with PIK3CD mutations.
Zhang Q et al.
Pediatric Investigation, 2018
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.
Rae W et al.
Clinical Genetics, 2018
Molecular Mechanisms of Human Disease Mediated by Oncogenic and Primary Immunodeficiency Mutations in Class IA Phosphoinositide 3-Kinases.
Dornan GL et al.
Frontiers in Immunology, 2018
Class-Switch Recombination (CSR)/Hyper-IgM (HIGM) Syndromes and Phosphoinositide 3-Kinase (PI3K) Defects.
Jhamnani RD et al.
Frontiers in Immunology, 2018
A novel germline gain-of-function variant in PIK3CD.
Rae W et al.
Clinical Immunology (orlando, Fla.), 2017
Epstein-Barr Virus Susceptibility in Activated PI3Kδ Syndrome (APDS) Immunodeficiency.
Carpier JM et al.
Frontiers in Immunology, 2017