Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CD
Variant:p.E81K
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PIK3CD

NM_005026.5:p.E81K

Associated Papers

CAR-adapted PIK3CD base editing enhances T cell anti-tumor potency.

Bucher P et al.

Nature Cancer, 2026

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

Technical challenges of intracellular flow cytometry-based assays as a functional complement to diagnosis of signaling defects of inborn errors of immunity: PI3K pathway as a case of study.

Del Pino Molina L et al.

Frontiers in Immunology, 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

Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.

Maccari ME et al.

The Journal of Allergy and Clinical Immunology, 2023

Two cases of successful sirolimus treatment for patients with activated phosphoinositide 3-kinase δ syndrome 1.

Jiang L et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2023

Activated Phosphoinositide 3-Kinase δ Syndrome: a Large Pediatric Cohort from a Single Center in China.

Qiu L et al.

Journal of Clinical Immunology, 2022

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

Fekrvand S et al.

Immunological Investigations, 2022

Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Quinn J et al.

Frontiers in Immunology, 2022

35757720 (PubMed )
Supplement: DataSheet_1.pdf

Cellular Mechanisms Underlying B Cell Abnormalities in Patients With Gain-of-Function Mutations in the PIK3CD Gene.

Wang W et al.

Frontiers in Immunology, 2022

The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms.

Schwartz JR et al.

Nature Communications, 2021

33579957 (PubMed )
Supplement: 41467_2021_21255_MOESM24_ESM.xlsx › Sup._Data_21_Serial_Sequencing

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

Case Report: First Occurrence of Plasmablastic Lymphoma in Activated Phosphoinositide 3-Kinase δ Syndrome.

Yin Z et al.

Frontiers in Immunology, 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

Tumor genetic heterogeneity analysis of chronic sun-damaged melanoma.

Sanna A et al.

Pigment Cell & Melanoma Research, 2020

31811783 (PubMed )
Supplement: PCMR-33-480-s003.xls › Supplementary_Table_3

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

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

Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy.

Michalovich D 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

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

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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."