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A. T. Nguyen

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Case report Open access Aug 2026

Case Report: Activated phosphoinositide 3-kinase δ syndrome mimicking Hyper-IgM syndrome: early hepatosplenomegaly as a key diagnostic clue

Background APDS is a combined immunodeficiency disorder, characterized by impaired antibody production and lymphoproliferation, with a high risk of malignancy and autoimmunity. The disease may be caused by autosomal dominant gain-of-function variants in the PIK3CD or loss-of-function variants in the PIK3R1 gene. Case s...

A. T. Nguyen, G. D. Nguyen, Q. T. Bui et al. · 0 citations

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