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Lymphocyte cytosolic protein 1 (L-plastin) I232F mutation impairs granulocytic proliferation and causes neutropenia

Neutrophils migrate into inflamed tissue, engage in phagocytosis, and clear pathogens or apoptotic cells. These processes require well-coordinated events involving the actin cytoskeleton. We describe a child with severe neutropenia and episodes of soft tissue infections and pneumonia. Bone marrow ex...

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Detalles Bibliográficos
Autores principales: Mahat, Upendra, Garg, Bhavuk, Yang, Chao-Yie, Mehta, Hrishikesh, Hanna, Rabi, Rogers, Heesun J., Flagg, Aron, Ivanov, Andrei I., Corey, Seth J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Hematology 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9043934/
https://www.ncbi.nlm.nih.gov/pubmed/34991157
http://dx.doi.org/10.1182/bloodadvances.2021006398