biostudies-literatureBarzaghi FMinistero della SalutePharming Group N.V.Development of Innovative Diagnostic and Therapeutic Approaches for PID grantRicerca Corrente 5x1000 from Childrens’ Hospital Bambino Gesù, Rome, ItalyRicerca Corrente 5x1000 from Childrens' Hospital Bambino Gesù, Rome, Italy58https://www.ebi.ac.uk/biostudies/studies/S-EPMC11666751biostudies-literatureUnknown45(1)<h4>Background</h4>Activated Phosphoinositide 3-Kinase (PI3K) δ Syndrome (APDS), an inborn error of immunity due to upregulation of the PI3K pathway, leads to recurrent infections and immune dysregulation (lymphoproliferation and autoimmunity).<h4>Methods</h4>Clinical and genetic data of 28 APDS patients from 25 unrelated families were collected from fifteen Italian centers.<h4>Results</h4>Patients were genetically confirmed with APDS-1 (n = 20) or APDS-2 (n = 8), with pathogenic mutations in the PIK3CD or PIK3R1 genes. The median age at diagnosis was 15.5 years, with a median follow-up of 74 months (range 6-384). The main presenting symptoms were respiratory tract infections alone (57%) or associated with lymphoproliferation (17%). Later, non-clonal lymphoproliferation was the leading cliJournal of clinical immunologyReport of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era.PMC11666751202205_INFETT_CIFALDIProgramma di rete, NET- 2011-02350069PNRR-MR1-2022-12376594De Rosa ACostagliola GTommasini AMilito CLougaris VMontin DGiardino GRicci SZecca MBarzaghi FMarinoni MMarzollo ARivalta BChinello MLodi LTrizzino AConti FBadolato RPignata CPanza GMartire BMoratti MBaselli LACancrini CfalseReport of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era.<h4>Background</h4>Activated Phosphoinositide 3-Kinase (PI3K) δ Syndrome (APDS), an inborn error of immunity due to upregulation of the PI3K pathway, leads to recurrent infections and immune dysregulation (lymphoproliferation and autoimmunity).<h4>Methods</h4>Clinical and genetic data of 28 APDS patients from 25 unrelated families were collected from fifteen Italian centers.<h4>Results</h4>Patients were genetically confirmed with APDS-1 (n = 20) or APDS-2 (n = 8), with pathogenic mutations in the PIK3CD or PIK3R1 genes. The median age at diagnosis was 15.5 years, with a median follow-up of 74 months (range 6-384). The main presenting symptoms were respiratory tract infections alone (57%) or associated with lymphoproliferation (17%). Later, non-clonal lymphoproliferation was the leading cli2024-01-01T00:00:00Z2024 Dec2026-06-01T23:05:53.466Z2025-04-07T13:36:23.813ZS-EPMC116667513971459410.1007/s10875-024-01835-1