original ) (raw )A human immunodeficiency caused by mutations in the PIK3R1 gene
Capucine Picard
2014
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Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections
Radana Zachová
Clinical Immunology, 2017
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Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K
Koneti Rao
The Journal of experimental medicine, 2014
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Clinical and immunological phenotype associated with activated PI3-kinase delta syndrome 2 (APDS2 / PASLI-R1) - A cohort study
Tanya Coulter
Journal of Allergy and Clinical Immunology, 2016
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Disorders Related to PI3Kδ Hyperactivation: Characterizing the Clinical and Immunological Features of Activated PI3-Kinase Delta Syndromes
Tanya Coulter
Frontiers in Pediatrics, 2021
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Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome
Kanako Mitsui-Sekinaka
Frontiers in immunology, 2018
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Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature
Rebecca Buckley
Journal of clinical immunology, 2016
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Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3CD
Koneti Rao
The Journal of Allergy and Clinical Immunology, 2017
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Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome
Jon Salisbury
Journal of Allergy and Clinical Immunology, 2014
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Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation
Jörg Menche
Haematologica, 2020
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Activated Phosphoinositide 3 Kinase Delta Syndrome (APDS): A Primary Immunodeficiency Mimicking Lymphoma
afnan jobran
Journal of Pediatric Hematology/Oncology, 2018
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Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome
Sylwia Kołtan
Journal of Allergy and Clinical Immunology, 2017
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Identification of a novel de novo gain-of-function mutation of PIK3CD in a patient with activated phosphoinositide 3-kinase δ syndrome
Ying Luo
Clinical immunology (Orlando, Fla.), 2018
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Primary immunodeficiency disorder caused by phosphoinositide 3–kinase δ deficiency
Alexandra Jablonka
Journal of Allergy and Clinical Immunology, 2018
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Role of PI3K in the generation and survival of B cells
Elias Hobeika
Immunological Reviews, 2010
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Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency
Joao Bosco Oliveira
Nature Immunology, 2013
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Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation, function and EBV immunity
Emily Edwards
The Journal of allergy and clinical immunology, 2018
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Clinical spectrum and features of activated PI3-kinase delta syndrome: a large patient cohort study
Tanya Coulter
Journal of Allergy and Clinical Immunology, 2016
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Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study
Elizabeth McDermott
Journal of Allergy and Clinical Immunology, 2016
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PI3K induces B-cell development and regulates B cell identity
Hend Abdelrasoul
Scientific reports, 2018
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Activated PIK3CD drives innate B cell expansion yet limits B cell-intrinsic immune responses
Michelle Dutra
The Journal of experimental medicine, 2018
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Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1)
Capucine Picard
Haematologica, 2017
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A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1)
Vassilios Lougaris
Clinical Immunology
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The Treatment of Activated PI3Kδ Syndrome
Tanya Coulter
Frontiers in immunology, 2018
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The catalytic PI3K isoforms p110γ and p110δ contribute to B cell development and maintenance, transformation, and proliferation
Bernd Nürnberg
Journal of Leukocyte Biology, 2010
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Activated PI3K-delta syndrome in an Egyptian pediatric cohort with primary immune deficiency
Alia Abdelmonem
Allergologia et Immunopathologia, 2020
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A Precision B Cell–Targeted Therapeutic Approach to Autoimmunity Caused by Phosphatidylinositol 3-Kinase Pathway Dysregulation
John Cambier
The Journal of Immunology
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