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

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

(2022) Luyao Qiu et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Celastrol Alleviates Autoimmune Hepatitis Through the PI3K/AKT Signaling Pathway Based on Network Pharmacology and Experiments

(2022) Shuhui Wang et al.   Frontiers in Pharmacology

The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

(2022) Aziz Bousfiha et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Randomized, Placebo-Controlled, Phase 3 Trial of PI3Kδ Inhibitor Leniolisib for Activated PI3Kδ Syndrome

(2022) V. Koneti Rao et al.   BLOOD

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

(2021) Saba Fekrvand et al.   IMMUNOLOGICAL INVESTIGATIONS

Recent Advances in Lupus B Cell Biology: PI3K, IFNγ, and Chromatin

(2021) Maria A. Bacalao et al.   Frontiers in Immunology

Autoimmune Cytopenia as an Early and Initial Presenting Manifestation in Activated PI3 Kinase Delta Syndrome (APDS)

(2021) Stephen A. Schworer et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Activated PI3Kinase Delta Syndrome—A Multifaceted Disease

(2021) Romane Thouenon et al.   Frontiers in Pediatrics

Evaluation of Radiation Sensitivity in Patients with Hyper IgM Syndrome

(2020) Saba Fekrvand et al.   IMMUNOLOGICAL INVESTIGATIONS

A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1)

(2019) Vassilios Lougaris et al.   CLINICAL IMMUNOLOGY

Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review

(2019) Mahnaz Jamee et al.   CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY

PI3K pathway defects leading to immunodeficiency and immune dysregulation

(2019) Cristiane J. Nunes-Santos et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A mutation in PIK3CD gene causing pediatric systemic lupus erythematosus

(2019) Guo-Min Li et al.   MEDICINE

T and B‐cell signaling in activated PI3K delta syndrome: From immunodeficiency to autoimmunity

(2019) Silvia Preite et al.   IMMUNOLOGICAL REVIEWS

Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production

(2019) Anthony Lau et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1

(2018) Tsubasa Okano et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function and EBV immunity

(2018) Emily S.J. Edwards et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment

(2018) Raquel Ruiz-García et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

“Immune TOR-opathies,” a Novel Disease Entity in Clinical Immunology

(2018) Sophie Jung et al.   Frontiers in Immunology

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

(2018) Maria Elena Maccari et al.   Frontiers in Immunology

The Treatment of Activated PI3Kδ Syndrome

(2018) Tanya I. Coulter et al.   Frontiers in Immunology

Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1)

(2017) Lucie Heurtier et al.   HAEMATOLOGICA

Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans

(2017) Andrew J. Takeda et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study

(2017) Tanya I. Coulter et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome

(2017) Zohreh Nademi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Conformational disruption of PI3Kδ regulation by immunodeficiency mutations inPIK3CDandPIK3R1

(2017) Gillian L. Dornan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Discovery of CDZ173 (Leniolisib), Representing a Structurally Novel Class of PI3K Delta-Selective Inhibitors

(2017) Klemens Hoegenauer et al.   ACS Medicinal Chemistry Letters

Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1)

(2017) Lucie Heurtier et al.   HAEMATOLOGICA

Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis

(2014) Heather N. Hartman et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

(2013) Carrie L Lucas et al.   NATURE IMMUNOLOGY