Article
Lymphocyte cytosolic protein 1 (L-plastin) I232F mutation impairs granulocytic proliferation and causes neutropenia.
Blood advances - 26 Apr 2022
Mahat Upendra, Garg Bhavuk, Yang Chao-Yie, Mehta Hrishikesh, Hanna Rabi, Rogers Heesun J, Flagg Aron, Ivanov Andrei I, Corey Seth J
Abstract excerpt
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 examination showed granulocytic hypoplasia with dysplasia. Whole-exome sequencing revealed a de novo heterozygous...
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