Associated Papers
Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and function.
Vatovec T et al.
Nature Immunology, 2026
Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.
Colin-Leitzinger C et al.
Human Genomics, 2025
Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment.
Walsh ZH et al.
Cell, 2025
Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.
Esai Selvan M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.
Hiitola E et al.
Science Advances, 2025
Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.
Colin-Leitzinger C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Mapping variant effects on anti-tumor hallmarks of primary human T cells with base-editing screens.
Walsh ZH et al.
Nature Biotechnology, 2025
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
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
Massively parallel base editing screens to map variant effects on anti-tumor hallmarks of primary human T cells.
Walsh ZH et al.
Biorxiv : the Preprint Server for Biology, 2023
Clinical practice guideline for activated phosphatidyl inositol 3-kinase-delta syndrome in Japan.
Moriya K et al.
Immunological Medicine, 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
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
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
Genetic mechanisms of HLA-I loss and immune escape in diffuse large B cell lymphoma.
Fangazio M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.
Tsui DWY et al.
Genome Medicine, 2021
Activated PI3Kinase Delta Syndrome-A Multifaceted Disease.
Thouenon R 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
Genomic landscape of platinum resistant and sensitive testicular cancers.
Loveday C et al.
Nature Communications, 2020
Germ Cell Tumor Molecular Heterogeneity Revealed Through Analysis of Primary and Metastasis Pairs.
Cheng ML et al.
Jco Precision Oncology, 2020
Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ.
Swan DJ et al.
Haematologica, 2019
A recurrent clonally distinct Burkitt lymphoma case highlights genetic key events contributing to oncogenesis.
Penther D et al.
Genes, Chromosomes & Cancer, 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
Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy.
Michalovich D et al.
Frontiers in Immunology, 2018
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.
Maccari ME 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
Evaluation of Lymphoproliferative Disease and Increased Risk of Lymphoma in Activated Phosphoinositide 3 Kinase Delta Syndrome: A Case Report With Discussion.
Pham MN et al.
Frontiers in Pediatrics, 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
Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders.
Notarangelo LD et al.
The Journal of Allergy and Clinical Immunology, 2017
Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in PIK3CD and PIK3R1.
Dornan GL et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.
Coulter TI et al.
The Journal of Allergy and Clinical Immunology, 2017
Epstein-Barr Virus Susceptibility in Activated PI3Kδ Syndrome (APDS) Immunodeficiency.
Carpier JM et al.
Frontiers in Immunology, 2017
PI3Kδ and primary immunodeficiencies.
Lucas CL et al.
Nature Reviews. Immunology, 2016
Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency.
Elgizouli M et al.
Clinical and Experimental Immunology, 2016
Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility.
Crank MC et al.
Journal of Clinical Immunology, 2014