Associated Papers
Clinical and genetic findings of individuals tested using the navigateAPDS genetic testing program.
Campbell E et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & 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
Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.
Lee JK et al.
Journal of Clinical Immunology, 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
The constitutive oncogenic and signaling activities of phosphatidylinositol 3-kinase (PI3K) isoforms p110β and p110δ.
Ito Y et al.
Biorxiv : the Preprint Server for Biology, 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
Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach.
Rozevska M et al.
Frontiers in Immunology, 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
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
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Erman B 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
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 PI3K delta syndrome 1 mutations cause neutrophilia in zebrafish larvae.
Elworthy S et al.
Disease Models & Mechanisms, 2023
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
Short stature and combined immunodeficiency associated with mutations in RGS10.
Chinn IK et al.
Science Signaling, 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
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
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N et al.
Frontiers in 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
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
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
Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion.
Kiyota K et al.
European Journal of Medical Genetics, 2018
Advances and highlights in primary immunodeficiencies in 2017.
Chinen J et al.
The Journal of Allergy and Clinical Immunology, 2018
Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment.
Ruiz-García R et al.
The Journal of Allergy and Clinical Immunology, 2018
Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy.
Michalovich D et al.
Frontiers in Immunology, 2018
Phosphoinositide-3-Kinase Signaling in Human Natural Killer Cells: New Insights from Primary Immunodeficiency.
Mace EM
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
Lessons learned from additional research analyses of unsolved clinical exome cases.
Eldomery MK et al.
Genome Medicine, 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
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
Activated phosphoinositide 3-kinase δ syndrome presenting with gut-associated T-cell lymphoproliferative disease.
Teranishi H et al.
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2017