Diagnostic odyssey of patients with the rare immunodeficiency activated PI3 kinase delta syndrome (APDS): case study from expert and patient surveys.

E1021K mutation in PIK3CD gene: clinical heterogeneity and therapeutic implications in three pediatric APDS cases.

Phosphoinositide 3-kinase δ activity in patients with systemic lupus erythematosus.

Allergic airway reactions rewired by PI3Kδ mutation.

Activated PI3Kδ syndrome in inborn errors of immunity: diagnostic strategies and clinical challenges.

Recurrent Macular Vasculitis in Hypergammaglobulinemia as an Underrecognized Presenting Manifestation of Activated PI3K Delta Syndrome.

A rare case report of activated PI3K delta syndrome (APDS): diagnostic pitfalls.

Natural history of clinical manifestations in activated phosphoinositide 3-kinase δ syndrome (APDS): Time-to-event analyses using the European Society for Immunodeficiencies-APDS registry.

Key outcomes in treatment of activated phosphoinositide 3-kinase delta syndrome: An e-Delphi panel study and responder threshold application.

Real-World Health Care Resource Utilization and Costs Among Patients with Activated Phosphoinositide 3-Kinase Delta (PI3Kδ) Syndrome in the United States.

Activated PI3K-δ syndrome presenting with cervical lymphadenopathy in a pediatric patient: a case report and review of the literature.

The double-edged sword of PI3Kδ pathway-related immune dysregulation: insights from two case reports.

Is it time for the A/I (allergist/immunologist) to embrace AI (artificial intelligence) in diagnosis and treatment of the inborn errors of immunity?

Activated PI3K Delta Syndrome: A Case Presentation and Literature Review.

PI3K GOF leads to dysregulation of T and B cells that both contribute to extrinsically driving activation and differentiation of other CD4+ T cells.

Systematic literature reviews to identify epidemiological, clinical, economic and health-related quality of life evidence in activated PI3Kδ syndrome (APDS).

Loss of B cell tolerance at the T2/T3a B cell transition is a convergent pathogenic mechanism in common variable immunodeficiency.

Estimated annual direct medical costs of manifestations among patients with activated phosphoinositide 3-kinase delta syndrome.

Refractory marginal zone lymphoma uncovers activated phosphoinositide 3-kinase delta syndrome type 1 (APDS1).

Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment.

The Impact of Activated Phosphoinositide 3-Kinase δ Syndrome (APDS) on Health-Related Quality of Life (HRQoL): Elicitation of Health State Utility Values Through Time Trade-Off (TTO) and EQ-5D.

EBV-positive diffuse large B cell lymphoma secondary to activated phosphoinositide 3 kinase δ syndrome type 1 (APDS1): a case report and literature review.

Precision Medicine in Pediatric Autoimmunity: Leniolisib Treatment of Childhood-Onset Lupus Nephritis Due to Activated Phosphoinositide 3-Kinase δ Syndrome.

Case Report: Activated PI3-kinase-δ syndrome and ovarian malignancies: a case series from the European ESID-APDS registry.

Overall survival among patients with activated phosphoinositide 3-kinase delta syndrome (APDS).

Disseminated Ureaplasma urealyticum Infection and Hyperammonemic Encephalopathy in a Patient With Activated PI3K Delta Syndrome 2.

Spanish Consensus on the Diagnosis and Management of Patients With Activated PI3K Delta Syndrome (APDS).

Recurrent Panuveitis as a Manifestation of a Novel PIK3CD Gene Mutation: A Diagnostic and Management Challenge.

Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome.

Listeria Meningitis as an Indication of Undiagnosed Primary Immune Deficiency, Activated Phosphoinositide 3-Kinase Delta Syndrome: A Case Report.

Expert insights on Hodgkin's lymphoma development in an activated PI3K delta syndrome patient undergoing leniolisib treatment.

Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report.

Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era.

Hyperactivation of the PI3K pathway in inborn errors of immunity: current understanding and therapeutic perspectives.

Comparative efficacy of leniolisib (CDZ173) versus standard of care on rates of respiratory tract infection and serum immunoglobulin M (IgM) levels among individuals with activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): an externally controlled study.

Beyond FAScinating: advances in diagnosis and management of autoimmune lymphoproliferative syndrome and activated PI3 kinase δ syndrome.

Genetic Etiologies and Outcomes in Malignancy and Mortality in Activated Phosphoinositide 3-Kinase Delta Syndrome: A Systematic Review.

Technical challenges of intracellular flow cytometry-based assays as a functional complement to diagnosis of signaling defects of inborn errors of immunity: PI3K pathway as a case of study.

A randomised, placebo-controlled, phase III trial of leniolisib in activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): Adolescent and adult subgroup analysis.

A single center experience on PI3K/AKT/MTOR signaling defects: Towards pathogenicity assessment for four novel defects.

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.

Case report on activated PI3K-delta syndrome.

Flow cytometry-based diagnostic approach for inborn errors of immunity: experience from Algeria.

Activated PI3Kδ Specifically Perturbs Mouse Regulatory T Cell Homeostasis and Function Leading to Immune Dysregulation.

[Activated phosphoinositide 3-kinase delta syndrome: report of seven cases].

Activated phosphoinositde 3-kinase (PI3Kδ) syndrome: an Italian point of view on diagnosis and new advances in treatment.

A qualitative study to explore the burden of disease in activated phosphoinositide 3-kinase delta syndrome (APDS).

Long-term treatment with selective PI3Kδ inhibitor leniolisib in adults with activated PI3Kδ syndrome.

Hypogammaglobulinemia in 2 children with Zhu-Tokita-Takenouchi-Kim syndrome.

APDS patients with immune-complex vasculitis and resolution with leniolisib.

Systematic review of mortality and survival rates for APDS.

Modulating the PI3K Signalling Pathway in Activated PI3K Delta Syndrome: a Clinical Perspective.

A somatic splice-site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report.

Activated PI3K delta syndrome 1 mutations cause neutrophilia in zebrafish larvae.

Case Report: Successful Treatment With Monoclonal Antibodies in One APDS Patient With Prolonged SARS-CoV-2 Infection Not Responsive to Previous Lines of Treatment.

Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance.

Case Report: A Severe Paediatric Presentation of COVID-19 in APDS2 Immunodeficiency.

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

AKT Hyperphosphorylation and T Cell Exhaustion in Down Syndrome.

Dysregulated PI3K Signaling in B Cells of CVID Patients.

Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study.

Case Report: First Occurrence of Plasmablastic Lymphoma in Activated Phosphoinositide 3-Kinase δ Syndrome.

Case Report: Intestinal Nodular Lymphoid Hyperplasia as First Manifestation of Activated PI3Kδ Syndrome Due to a Novel PIK3CD Variant.

PI3Kδ coordinates transcriptional, chromatin, and metabolic changes to promote effector CD8+ T cells at the expense of central memory.

Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies.

Disorders Related to PI3Kδ Hyperactivation: Characterizing the Clinical and Immunological Features of Activated PI3-Kinase Delta Syndromes.

PI3K in T Cell Adhesion and Trafficking.

Phosphatidylinositol 3-kinase signaling and immune regulation: insights into disease pathogenesis and clinical implications.

Hemophagocytic Lymphohistiocytosis in Activated PI3K Delta Syndrome: an Illustrative Case Report.

Autoimmune Cytopenia as an Early and Initial Presenting Manifestation in Activated PI3 Kinase Delta Syndrome: Case Report and Review.

Infections in activated PI3K delta syndrome (APDS).

International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome.

Case Report: Activating PIK3CD Mutation in Patients Presenting With Granulomatosis With Polyangiitis.

Update on Infections in Primary Antibody Deficiencies.

Generation, establishment and characterization of a pluripotent stem cell line (CVTTHi001-A) from primary fibroblasts isolated from a patient with activated PI3 kinase delta syndrome (APDS2).

Endoscopic airway manifestations in a pediatric patient with activated PI3K-delta syndrome.

Evaluation of B-cell intracellular signaling by monitoring the PI3K-Akt axis in patients with common variable immunodeficiency and activated phosphoinositide 3-kinase delta syndrome.

APDS2 and SHORT Syndrome in a Teenager with PIK3R1 Pathogenic Variant.

Transverse myelitis in a patient with activated phosphoinositide 3-kinase δ syndrome type 1.

Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ.

Successful Sirolimus Treatment for Korean Patients with Activated Phosphoinositide 3-kinase δ Syndrome 1: the First Case Series in Korea.

[Clinical and immunological characteristics of a case with activated phosphoinositide 3-kinase δ syndrome 2].

Activated PI3K-delta syndrome in an Egyptian pediatric cohort with primary immune deficiency.

Activated phosphoinositide 3-kinase delta syndrome 1 and 2 (APDS 1 and APDS 2): similarities and differences based on clinical presentation in two boys.

Multidrug-resistant Salmonella enterica serovar London carrying blaNDM-1 encoding plasmid from Singapore.

E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1.

Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2.

Dysregulated actin dynamics in activated PI3Kδ syndrome.

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

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

A mutation in PIK3CD gene causing pediatric systemic lupus erythematosus: A case report.

A Rare Case of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) Presenting With Hemophagocytosis Complicated With Hodgkin Lymphoma.

Case Study: Mechanism for Increased Follicular Helper T Cell Development in Activated PI3K Delta Syndrome.

Immune Dysregulation and Disease Pathogenesis due to Activating Mutations in PIK3CD-the Goldilocks' Effect.

PIK3R1 Mutation Associated with Hyper IgM (APDS2 Syndrome): A Case Report and Review of the Literature.

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

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

Report of a Chinese Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome.

Activated Phosphoinositide 3 Kinase Delta Syndrome (APDS): A Primary Immunodeficiency Mimicking Lymphoma.

The Treatment of Activated PI3Kδ Syndrome.

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

Identification of a novel de novo gain-of-function mutation of PIK3CD in a patient with activated phosphoinositide 3-kinase δ syndrome.

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

Long-term follow-up of an activated PI3K-δ syndrome 2 in patient presenting with an agammaglobulinemia phenotype.

Successful haploidentical transplantation with post-transplant cyclophosphamide for activated phosphoinositide 3-kinase δ syndrome.

CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome.

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

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.

Herpesviruses in the Activated Phosphatidylinositol-3-Kinase-δ Syndrome.

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

Respiratory Manifestations of the Activated Phosphoinositide 3-Kinase Delta Syndrome.

Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy.

Phosphoinositide 3-kinase δ (PI3Kδ) in respiratory disease.

Disseminated abscesses due to Mycoplasma faucium in a patient with activated PI3Kδ syndrome type 2.

Liver disturbances in activated phosphoinositide 3-kinase δ syndrome.

Hematopoietic cell transplantation in primary immunodeficiency - conventional and emerging indications.

Type 1 diabetes mellitus associated with activated phosphatidylinositol 3-kinase delta syndrome, type 2.

Effective "activated PI3Kδ syndrome"-targeted therapy with the PI3Kδ inhibitor leniolisib.

Successful bone marrow transplantation in two sisters with activated phosphoinositide 3-kinase δ syndrome 2.

Early diagnosis of PI3Kδ syndrome in a 2 years old girl with recurrent otitis and enlarged spleen.

Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack.

The Selective Phosphoinoside-3-Kinase p110δ Inhibitor IPI-3063 Potently Suppresses B Cell Survival, Proliferation, and Differentiation.

Thyroid Carcinoma in a Child with Activated Phosphoinositide 3-Kinase δ Syndrome: Somatic Effect of a Germline Mutation.

Immunodeficiency-Associated Lymphoid Hyperplasia As a Cause of Intussusception in a Case of Activated PI3K-δ Syndrome.

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

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

Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.

Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in PIK3CD and PIK3R1.

Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections.

Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome.

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

[Clinical and genetic analysis for activated PI3K-δ syndrome by PIK3CD gene mutation].

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

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

Activated PI3-kinase δ Syndrome: Long-term Follow-up after Cord Blood Transplantation.

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

The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment.

Gain-of-function mutations and immunodeficiency: at a loss for proper tuning of lymphocyte signaling.

Activated phosphoinositide 3-kinase δ syndrome in a patient with a former diagnosis of common variable immune deficiency, bronchiectasis, and lymphoproliferative disease.