Immune Dysregulation and Disease Pathogenesis due to Activating Mutations in PIK3CD—the Goldilocks’ Effect

PI3K Orchestrates T Follicular Helper Cell Differentiation in a Context Dependent Manner: Implications for Autoimmunity

(2019) Silvia Preite et al.   Frontiers in Immunology

Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells

(2019) Julia Bier et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

The T H 1 phenotype of follicular helper T cells indicates an IFN-γ–associated immune dysregulation in patients with CD21low common variable immunodeficiency

(2018) Susanne Unger 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

Primary immunodeficiency disorder caused by phosphoinositide 3-kinase delta (PI3Kδ) deficiency

(2018) Georgios Sogkas et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Germline-activating mutations inPIK3CDcompromise B cell development and function

(2018) Danielle T. Avery et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Exhaustion of the CD8+ T Cell Compartment in Patients with Mutations in Phosphoinositide 3-Kinase Delta

(2018) Marjolein W. J. Wentink et al.   Frontiers in Immunology

Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy

(2018) David Michalovich 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

Activated PIK3CD drives innate B cell expansion yet limits B cell–intrinsic immune responses

(2018) Michelle N. Wray-Dutra et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Hyperactivated PI3Kδ promotes self and commensal reactivity at the expense of optimal humoral immunity

(2018) Silvia Preite et al.   NATURE IMMUNOLOGY

PI3Kδ hyper-activation promotes development of B cells that exacerbate Streptococcus pneumoniae infection in an antibody-independent manner

(2018) Anne-Katrien Stark et al.   Nature Communications

Genetic Defects in Phosphoinositide 3-Kinase δ Influence CD8+ T Cell Survival, Differentiation, and Function

(2018) Jennifer L. Cannons et al.   Frontiers in Immunology

Human primary immunodeficiency caused by expression of a kinase-dead p110δ mutant

(2018) Sarah Beaussant Cohen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells

(2017) Hannah H. Chen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3CD

(2017) Alina E. Dulau Florea et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features

(2017) Nigel Sharfe 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

Persistent Impairment of T-Cell Regeneration in a Patient with Activated PI3K δ Syndrome

(2017) Fumihiro Goto et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1

(2017) Paoyun Tang et al.   JOURNAL OF 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

Precision treatment with sirolimus in a case of activated phosphoinositide 3-kinase δ syndrome

(2016) William Rae et al.   CLINICAL IMMUNOLOGY

Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections

(2016) María Teresa Martínez-Saavedra et al.   CLINICAL IMMUNOLOGY

De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly

(2016) Michaela Kuhlen et al.   CLINICAL IMMUNOLOGY

Phosphatase and tensin homolog ( PTEN ) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome–like immunodeficiency

(2016) Yuki Tsujita et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency

(2016) Gertjan J. Driessen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study

(2016) Elodie Elkaim et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature

(2016) Slavé Petrovski et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature

(2016) Peter Olbrich et al.   PEDIATRIC ALLERGY AND IMMUNOLOGY

Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency

(2015) M. Elgizouli et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype

(2015) Vassilios Lougaris et al.   CLINICAL IMMUNOLOGY

The FOXO1 Transcription Factor Instructs the Germinal Center Dark Zone Program

(2015) David Dominguez-Sola et al.   IMMUNITY

PI3 Kinase and FOXO1 Transcription Factor Activity Differentially Control B Cells in the Germinal Center Light and Dark Zones

(2015) Sandrine Sander et al.   IMMUNITY

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

(2015) Cindy S. Ma et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Imbalanced PTEN and PI3K Signaling Impairs Class Switch Recombination

(2015) Z. Chen et al.   JOURNAL OF IMMUNOLOGY

Cowden's syndrome with immunodeficiency

(2015) Michael J Browning et al.   JOURNAL OF MEDICAL GENETICS

Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome

(2014) Sven Kracker et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

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

Mutations in PIK3CD Can Cause Hyper IgM Syndrome (HIGM) Associated with Increased Cancer Susceptibility

(2014) M. C. Crank et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A human immunodeficiency caused by mutations in the PIK3R1 gene

(2014) Marie-Céline Deau et al.   JOURNAL OF CLINICAL INVESTIGATION

Heterozygous splice mutation inPIK3R1causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K

(2014) Carrie L. Lucas et al.   JOURNAL OF EXPERIMENTAL MEDICINE

PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

(2013) Christel Thauvin-Robinet et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PIK3R1 Cause SHORT Syndrome

(2013) David A. Dyment et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling

(2013) Kishan Kumar Chudasama et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Signaling by the Phosphoinositide 3-Kinase Family in Immune Cells

(2013) Klaus Okkenhaug   Annual Review of 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

Phosphoinositide 3-Kinase   Gene Mutation Predisposes to Respiratory Infection and Airway Damage

(2013) I. Angulo et al.   SCIENCE

Context-Specific BAFF-R Signaling by the NF-κB and PI3K Pathways

(2013) Julia Jellusova et al.   Cell Reports

Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K

(2012) Mary Ellen Conley et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Akt and mTOR in B Cell Activation and Differentiation

(2012) Jose J. Limon et al.   Frontiers in Immunology

Human Blood CXCR5+CD4+ T Cells Are Counterparts of T Follicular Cells and Contain Specific Subsets that Differentially Support Antibody Secretion

(2011) Rimpei Morita et al.   IMMUNITY

PI3K p110  regulates T-cell cytokine production during primary and secondary immune responses in mice and humans

(2010) D. R. Soond et al.   BLOOD

Coordinate suppression of B cell lymphoma by PTEN and SHIP phosphatases

(2010) Ana V. Miletic et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Phosphoinositide 3-Kinase Activity in T Cells Regulates the Magnitude of the Germinal Center Reaction

(2010) J. Rolf et al.   JOURNAL OF IMMUNOLOGY

PI3 Kinase Signals BCR-Dependent Mature B Cell Survival

(2009) Lakshmi Srinivasan et al.   CELL

Suppression of Phosphatidylinositol 3,4,5-Trisphosphate Production Is a Key Determinant of B Cell Anergy

(2009) Cecille D. Browne et al.   IMMUNITY

The role of costimulation in antibody deficiencies: ICOS and common variable immunodeficiency

(2009) Patrick F. K. Yong et al.   IMMUNOLOGICAL REVIEWS

Inducible costimulator promotes helper T-cell differentiation through phosphoinositide 3-kinase

(2009) M. Gigoux et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deletion of PI3K-p85α gene impairs lineage commitment, terminal maturation, cytokine generation and cytotoxicity of NK cells

(2008) A Awasthi et al.   GENES AND IMMUNITY

Genetic or pharmaceutical blockade of p110δ phosphoinositide 3-kinase enhances IgE production

(2008) Ting-ting Zhang et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The p110δ of PI3K plays a critical role in NK cell terminal maturation and cytokine/chemokine generation

(2008) Hailong Guo et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Distinct functions for the transcription factor Foxo1 at various stages of B cell differentiation

(2008) Hart S Dengler et al.   NATURE IMMUNOLOGY