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

doi:10.1007/s10875-024-01835-1

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Article

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

Journal of clinical immunology - 23 Dec 2024

Barzaghi Federica, Moratti Mattia, Panza Giuseppina, Rivalta Beatrice, Giardino Giuliana, De Rosa Antonio, Baselli Lucia Augusta, Chinello Matteo, Marzollo Antonio, Montin Davide, Marinoni Maddalena, Costagliola Giorgio, Ricci Silvia, Lodi Lorenzo, Martire Baldassarre, Milito Cinzia, Trizzino Antonino, Tommasini Alberto, Zecca Marco, Badolato Raffaele, Cancrini Caterina, Lougaris Vassilios, Pignata Claudio, Conti Francesca

Abstract excerpt

BACKGROUND: 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). METHODS: Clinical and genetic data of 28 APDS patients from 25 unrelated families were collected from fifteen Italian centers. RESULTS: Patients were genetically confirmed with...

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PMID: 39714594
DOI: 10.1007/s10875-024-01835-1
PMCID: PMC11666751

Genes

PIK3CD

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