Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CD
Variant:p.R929C
Back to variants list

PIK3CD

NM_005026.5:p.R929C

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

The First Iranian Cohort of Pediatric Patients with Activated Phosphoinositide 3-Kinase-δ (PI3Kδ) Syndrome (APDS).

Fekrvand S et al.

Immunological Investigations, 2022

Genomic crossroads between non-Hodgkin's lymphoma and common variable immunodeficiency.

Guevara-Hoyer K et al.

Frontiers in Immunology, 2022

35990641 (PubMed )
Supplement: DataSheet_2.xlsx › Supp_Table_2

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

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Suratannon N et al.

Frontiers in Immunology, 2020

32373116 (PubMed )
Supplement: Table_1.xlsx › Table_E1_Previously_diagnosed

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

Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy.

Michalovich D et al.

Frontiers in Immunology, 2018

Exhaustion of the CD8+ T Cell Compartment in Patients with Mutations in Phosphoinositide 3-Kinase Delta.

Wentink MWJ et al.

Frontiers in Immunology, 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

Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections.

Wentink M 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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."