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
Recurrent Panuveitis as a Manifestation of a Novel PIK3CD Gene Mutation: A Diagnostic and Management Challenge.
Rana V et al.
Ocular Immunology and Inflammation, 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
Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome.
Orellana H et al.
Frontiers in Immunology, 2024
Case Report: Early-onset or recalcitrant cytopenias as presenting manifestations of activated PI3Kδ syndrome.
Remiker AS et al.
Frontiers in Pediatrics, 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
Clinical practice guideline for activated phosphatidyl inositol 3-kinase-delta syndrome in Japan.
Moriya K et al.
Immunological Medicine, 2023
Monomorphic epitheliotropic intestinal T-cell lymphoma comprises morphologic and genomic heterogeneity impacting outcome.
Veloza L et al.
Haematologica, 2023
Duplex Sequencing Uncovers Recurrent Low-frequency Cancer-associated Mutations in Infant and Childhood KMT2A-rearranged Acute Leukemia.
Pilheden M et al.
Hemasphere, 2022
Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.
Tran TH et al.
Blood Advances, 2022
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
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
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
The subclonal complexity of STIL-TAL1+ T-cell acute lymphoblastic leukaemia.
Furness CL et al.
Leukemia, 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
Novel GPR34 and CCR6 mutation and distinct genetic profiles in MALT lymphomas of different sites.
Moody S et al.
Haematologica, 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
The Genetic Basis of Hepatosplenic T-cell Lymphoma.
McKinney M et al.
Cancer Discovery, 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
Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.
Richter-Pechańska P et al.
Blood Cancer Journal, 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
Genomics of Immune Diseases and New Therapies.
Lenardo M et al.
Annual Review of Immunology, 2016
Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency.
Elgizouli M et al.
Clinical and Experimental Immunology, 2016
Gain-of-function mutations and immunodeficiency: at a loss for proper tuning of lymphocyte signaling.
Arjunaraja S et al.
Current Opinion in Allergy and Clinical Immunology, 2015
Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
van Schouwenburg PA et al.
Clinical Immunology (orlando, Fla.), 2015
Mendelian disorders of PI metabolizing enzymes.
Staiano L et al.
Biochimica Et Biophysica Acta, 2015
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency.
Lucas CL et al.
Nature Immunology, 2014