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Last Updated: 03/06/2025

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Found 29 publications

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

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

Journal: Frontiers in immunology
Published: October 26, 2024

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

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

Journal: Immunotherapy advances
Published: August 09, 2024

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: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome.

Journal: Frontiers in immunology
Published: June 18, 2024

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

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

Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
Published: May 15, 2024

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

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

Journal: Frontiers in immunology
Published: March 16, 2024

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

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

Journal: Clinical immunology (Orlando, Fla.)
Published: November 17, 2023

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

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

Journal: Journal of clinical immunology
Published: September 25, 2023

Systematic review of mortality and survival rates for APDS.

Systematic review of mortality and survival rates for APDS.

Journal: Clinical and experimental medicine
Published: September 25, 2023

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

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

Journal: Molecular genetics & genomic medicine
Published: April 28, 2023

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

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

Journal: Disease models & mechanisms
Published: August 15, 2022

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

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

Journal: Frontiers in immunology
Published: March 07, 2022

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

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

Journal: Frontiers in immunology
Published: February 22, 2022
Showing 1-12 of 29

Last Updated: 03/06/2025