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Updated: Jan 3, 2026

Aip1p Dynamics Are Altered by the R256H Mutation in Actin
Published on: July 30, 2014
Dysregulated actin dynamics in activated PI3Kδ syndrome
Jacqueline G Wallace1, Pedro Zambrano-Rodas2, Wilmer Córdova-Calderón3
1Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Abstract:
Activated PI3Kδ syndrome (APDS) Type I results from gain-of-function mutations in PIK3CD, which encodes the p110δ subunit of PI3Kδ. Abnormal actin dynamics have been hypothesized to contribute to the lymphopenia associated with this disease but have not been studied in patients with APDS. We report a patient with APDS who had widespread necrotic skin lesions that were responsive specifically to immunosuppressive therapy. EBV-transformed lymphoblastoid cells (EBV-LCLs) from patients with APDS exhibit increased polymerized actin and increased apoptosis, suggesting a contribution of impaired actin dynamics to this disease.
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