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Real-World Experience of Patients with PIK3CD/PIK3R1 variants: From Variant Resolution to Targeted Treatment

Activated PI3Kδ syndrome (APDS) is an inborn error of immunity brought on by pathogenic variants in PIK3CD or PIK3R1. Many sufferers current with variants of unsure significance (VUS), delaying analysis and therapy. We sought to emphasise the variant decision course of as a important step in guiding therapeutic selections.

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