New Biomarker-based Strategy to Screen and Monitor for Activated Phosphoinositide 3-kinase δ Syndrome
The study would like to compare patient samples at different time points using state-of the art-phenotyping tools. Collection of blood samples of APDS patients undergoing PI3K inhibitor treatment will be collected when feasible according to the standard of care planning (a blood test is supposed to be performed for these patients at M0-M3-M6-M12 then each 6 months for a total period of 2 years from the beginning of the PI3K inhibitor treatment). The whole blood will be processed in order to isolate the peripheral blood mononuclear cells (PBMC) and the plasma. Serum, RNA and DNA extraction will be performed on a separate sample.
⁃ Group 1:
• Patients with genetic diagnosis of APDS type 1 or type 2 and planned to be treated by PI3Kδ selective inhibitor leniolisib
• Primary immunodeficient patients with new disease-causing variants in the PIK3CD gene or PIK3R1 gene
• Minimum age 12 years old
• Patients or holders of parental authority do not oppose participation in this research.
• Patients affiliated to a Health Insurance scheme or beneficiaries
⁃ Group 2 :
• Patients with genetic diagnosis of APDS type 1 or type 2 already treated by PI3Kδ selective inhibitor leniolisib in the last 2 years
• Patients whose pre-treatment samples are available/analyzable
• Minimum age 12 years old
• Patients or holders of parental authority do not oppose participation in this research.
• patients affiliated to a Health Insurance scheme or beneficiaries