ArticleFrontiers in pediatrics2021
Case Report: EBV Chronic Infection and Lymphoproliferation in Four APDS Patients: The Challenge of Proper Characterization, Therapy, and Follow-Up.
Article in Frontiers in pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.
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Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 19 citations in OpenAlex.
- Systematic literature reviews to identify epidemiological, clinical, economic and health-related quality of life evidence in activated PI3Kδ syndrome (APDS).BMC immunology · 2025Pooled it
- Genetic Etiologies and Outcomes in Malignancy and Mortality in Activated Phosphoinositide 3-Kinase Delta Syndrome: A Systematic Review.Advances in therapy · 2025Pooled it
- Clinical and immunological spectrum of five patients with activated phosphoinositide 3-kinase δ syndrome 1: A multicentric study from India.Journal of human immunity · 2026Article
- APDS in a 3-year-old boy presenting with EBV viremia and hodgkin lymphoma associated with a novel germline heterozygous variant in PIK3CD and with characteristic immune phenotype but no upregulation of the T cell mTOR pathway.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2026Article
- Lymphoproliferation in inborn errors of immunity: From challenging diagnosis to histologic revision.Journal of human immunity · 2026Article
- Lymphoproliferation in Inborn Errors of Immunity: Mechanisms, Manifestations and Clinical Management, with a Focus on ALPID.ImmunoTargets and therapy · 2026Review
- Treating hematologic immune dysregulation in inborn errors of immunity: a real-life multicenter study.Frontiers in immunology · 2026Article
- A rare case report of activated PI3K delta syndrome (APDS): diagnostic pitfalls.BMC pediatrics · 2025Article
- Overall survival among patients with activated phosphoinositide 3-kinase delta syndrome (APDS).Orphanet journal of rare diseases · 2025Article
- Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era.Journal of clinical immunology · 2024Article
- Activated phosphoinositde 3-kinase (PI3Kδ) syndrome: an Italian point of view on diagnosis and new advances in treatment.Italian journal of pediatrics · 2024Review
- High Prevalence of Long COVID in Common Variable Immunodeficiency: An Italian Multicentric Study.Journal of clinical immunology · 2024Observational
- Case Report: Early-onset or recalcitrant cytopenias as presenting manifestations of activated PI3Kδ syndrome.Frontiers in pediatrics · 2024Article
- PI3Kδ Pathway Dysregulation and Unique Features of Its Inhibition by Leniolisib in Activated PI3Kδ Syndrome and Beyond.The journal of allergy and clinical immunology. In practice · 2024Article
- 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.Frontiers in immunology · 2024Article
- Modulating the PI3K Signalling Pathway in Activated PI3K Delta Syndrome: a Clinical Perspective.Journal of clinical immunology · 2023Review
- Hematopoietic stem cell transplantation in a patient with activated phosphoinositide 3-kinase δ syndrome: A case report and literature review.Central-European journal of immunology · 2023Article
- ANCA vasculitis expands the spectrum of autoimmune manifestations of activated PI3 kinase δ syndrome.Frontiers in pediatrics · 2023Review
- Initial sirolimus dosage recommendations for pediatric patients withFrontiers in pharmacology · 2022Article
- Lymphoproliferation in Inborn Errors of Immunity: The Eye Does Not See What the Mind Does Not Know.Frontiers in immunology · 2022Review
Corrections and comments
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Authors and funding
20 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Activated PI3K-kinase Delta Syndrome (APDS) is an autosomal-dominant primary immunodeficiency (PID) caused by the constitutive activation of the PI3Kδ kinase. The consequent hyperactivation of the PI3K-Akt-mTOR pathway leads to an impaired T- and B-cells differentiation and function, causing progressive lymphopenia, hypogammaglobulinemia and hyper IgM. Patients with APDS show recurrent sinopulmonary and chronic herpes virus infections, immune dysregulation manifestations, including cytopenia, arthritis, inflammatory enteropathy, and a predisposition to persistent non-neoplastic splenomegaly/lymphoproliferation and lymphoma. The recurrence of the lymphoproliferative disorder and the difficulties in the proper definition of malignancy on histological examination represents the main challenge in the clinical management of APDS patients, since a prompt and correct diagnosis is needed to avoid major complications. Targeted therapies with PI3Kδ-Akt-mTOR pathway pharmacologic inhibitors (i.e., Rapamycin, Theophylline, PI3K inhibitors) represent a good therapeutic strategy. They can also be used as bridge therapies when HSCT is required in order to control refractory symptoms. Indeed, treated patients showed a good tolerance, improved immunologic phenotype and reduced incidence/severity of immune dysregulation manifestations. Here, we describe our experience in the management of four patients, one male affected with APDS1 (P1) and the other three, a male and two females, with APDS2 (P2, P3, P4) presenting with chronic EBV replication, recurrent episodes of immune dysregulation manifestations and lymphomas. These cases highlighted the importance of a tailored and close follow-up, including serial endoscopic and lymph nodes biopsies control to detect a prompt and correct diagnosis and offer the best therapeutic strategy.
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