Dysregulated actin dynamics in activated PI3Kδ syndrome
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 |
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Rok vydání: | 2020 |
Předmět: |
0301 basic medicine
Class I Phosphatidylinositol 3-Kinases Primary Immunodeficiency Diseases Protein subunit Immunology Apoptosis macromolecular substances Article Necrosis 03 medical and health sciences 0302 clinical medicine Lymphopenia Actin dynamics Humans Immunology and Allergy In patient Cells Cultured Skin Chemistry musculoskeletal neural and ocular physiology Lymphoblast High-Throughput Nucleotide Sequencing musculoskeletal system Actins Actin Cytoskeleton 030104 developmental biology P110δ Child Preschool Gain of Function Mutation cardiovascular system Cancer research Polymerized actin Female Skin lesion circulatory and respiratory physiology 030215 immunology |
Zdroj: | Clin Immunol |
ISSN: | 1521-6616 |
DOI: | 10.1016/j.clim.2019.108311 |
Popis: | 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. |
Databáze: | OpenAIRE |
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