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.

Allergic airway reactions rewired by PI3Kδ mutation.

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

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.

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

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.

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.

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).

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.

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

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

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.

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].

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.

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

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.

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.

International retrospective study of allogeneic hematopoietic cell transplantation for 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.

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

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

Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2.

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

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.

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

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.

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

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

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

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

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.

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

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

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

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

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