Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.
Francesco SaettiniFabiola GuerraMario MauriClaire G SalterMargaret P AdamDavid AdamsEmma L BapleEstibaliz BarredoSanil BhatiaArndt BorkhardtAlfredo BruscoCristina BugarinClizia ChinelloAndrew H CrosbyPrecilla D'SouzaVanna DentiGrazia FazioSilvia GiulianiHye Sun KuehnHassan AmelAsha ElmiBernice LoFederica MalighettiGiorgia MandrileAndrea Martín-NaldaHeather C MeffordDaniele MorattoFatemeh Emam MousaviZoe NelsonLuis González Gutiérrez-SolanaEllen MacnamaraVincent MichaudMelanie O'LearyLisa PaganiLisa PavinatoPatricia VVelez SantamariaLaura Planas-SerraManuel QuadriMiquel Raspall-ChaureStefano RebellatoSergio D RosenzweigAgathe RoubertieDirk HolzingerChristin DealCatherine Walsh VockleyAngela Maria SavinoJennifer L StoddardHolm H UhligAurora PujolFulvio MagniGiuseppe PagliaGianni CazzanigaRocco PiazzaMatteo BarberisAndrea BiondiPublished in: Journal of clinical immunology (2024)
By altering lipid metabolism and TCA cycle, impairing mitochondrial activity, hyperactivating mTOR pathway and increasing autophagy, PI4KA-related disorder causes a syndromic inborn error of immunity presenting with B-cell deficiency and hypogammaglobulinemia.