Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CD
Variant:p.E525A
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PIK3CD

NM_005026.5:p.E525A

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

Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era.

Barzaghi F et al.

Journal of Clinical Immunology, 2024

Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype.

Zhao P et al.

Pediatric Rheumatology Online Journal, 2024

Base-editing mutagenesis maps alleles to tune human T cell functions.

Schmidt R et al.

Nature, 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

Activated phosphoinositide 3-kinase delta syndrome misdiagnosed as anti-neutrophil cytoplasmic antibody-associated vasculitis: a case report.

Zhang X et al.

The Journal of International Medical Research, 2021

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

Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study.

Schiavo E et al.

Frontiers in Immunology, 2021

Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients.

Tessarin G et al.

Journal of Clinical Medicine, 2020

Immune Dysregulation and Disease Pathogenesis due to Activating Mutations in PIK3CD-the Goldilocks' Effect.

Tangye SG et al.

Journal of Clinical Immunology, 2019

Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1.

Okano T et al.

The Journal of Allergy and Clinical Immunology, 2019

Case Study: Mechanism for Increased Follicular Helper T Cell Development in Activated PI3K Delta Syndrome.

Thauland TJ et al.

Frontiers in Immunology, 2019

Clinical and genetic analysis of immunodeficiency-related diseases associated with PIK3CD mutations.

Zhang Q et al.

Pediatric Investigation, 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

Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans.

Takeda AJ et al.

The Journal of Allergy and Clinical Immunology, 2017

A novel germline gain-of-function variant in PIK3CD.

Rae W et al.

Clinical Immunology (orlando, Fla.), 2017

Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1).

Heurtier L et al.

Haematologica, 2017

Epstein-Barr Virus Susceptibility in Activated PI3Kδ Syndrome (APDS) Immunodeficiency.

Carpier JM et al.

Frontiers in Immunology, 2017

Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency.

Tsujita Y et al.

The Journal of Allergy and Clinical Immunology, 2016

PI3Kδ and primary immunodeficiencies.

Lucas CL et al.

Nature Reviews. Immunology, 2016

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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."