ArticleFrontiers in immunology2026
Case Report: Activated phosphoinositide 3-kinase δ syndrome mimicking Hyper-IgM syndrome: early hepatosplenomegaly as a key diagnostic clue.
Article in Frontiers in immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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 Case summary: We report an 11-year-old girl with a history of recurrent respiratory infections, lymphoproliferation, and hepatosplenomegaly from early childhood. She was diagnosed with Hyper-IgM syndrome (HIGM) because of decreased IgA and IgG but increased IgM, and was treated with immunoglobulin replacement therapy, but there was no improvement in respiratory symptoms, and hepatosplenomegaly remained marked. Immunologic testing showed that, in addition to a reduced peripheral B-cell count, there was also a reduced CD4 Outcome: The patient maintained on immunoglobulin replacement therapy and corticosteroid therapy, with subsequent addition of sirolimus, and showed a rapid response with improvement in chronic productive cough, enlarged lymph nodes, and hepatosplenomegaly after 2 months. After 6 months of treatment, lymphodenopathy had resolved, and the liver and spleen returned to normal size. Conclusion: Early hepatosplenomegaly and lymphadenopathy are important warning signs of APDS in children with a Hyper IgM-like phenotype. This is particularly relevant in patients with CD4
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