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IntroductionActivated Phosphoinositide 3-Kinase Delta Syndrome (APDS) is a rare disease characterized by early-onset, progressive symptoms. Delayed diagnosis and inadequate treatment in childhood may exacerbate disease m...

RationaleActivated PI3K delta syndrome (APDS) is a rare primary immunodeficiency disease (PID) characterized in 2013. Caregivers of children with APDS juggle management of complex medical needs with family and work respo...

Leniolisib, a selective PI3Kδ inhibitor, is a Food and Drug Administration (FDA)-approved treatment for activated PI3Kδ syndrome (APDS) in patients ≥12 years weighing ≥45 kg. To determine its impact on children, pa...

BackgroundActivated phosphoinositide 3-kinase syndrome (APDS) is a rare inborn error of immunity with an autosomal-dominant inheritance pattern that leads to immune dysregulation. Presently, the natural history of diseas...

IntroductionActivated Phosphoinositide 3-Kinase Delta Syndrome (APDS) is a rare disease characterized by progressive symptoms that begin early in life, including lymphoproliferation, recurrent and persistent infections, ...

IntroductionActivated Phosphoinositide 3-Kinase Delta Syndrome (APDS), a rare inborn error of immunity, is associated with immunodeficiency and immune dysregulation. Clinical management includes symptomatic treatment wit...

We present a new instrument composed of a large number of sub-electron noise SkipperCCDs operated with a two stage analog multiplexed readout scheme suitable for scaling to thousands of channels. New, thick, 1.35 Mpix se...

Early diagnosis of primary immunodeficiency (PID) remains a significant clinical challenge, often delaying treatment and increasing the risk of severe infections. Accurate identification of antibody (Ab) deficiencies typ...

ObjectiveApproximately half of common variable immunodeficiency (CVID) patients develop debilitating and life-threatening clinical manifestations of immune dysregulation, including lymphoproliferation, cytopenias, inters...