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Autor:
Yesenia Limache Ontiveros, Janet Chou, Wilmer Córdova-Calderón, Daniel Mendoza-Quispe, Craig D. Platt, Santiago Estrada-Turriate, Pedro Zambrano-Rodas, Jacqueline G. Wallace, Raif S. Geha
Publikováno v:
Clin Immunol
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 ha