Article
Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency.
Blood - 27 Oct 2016
Kuhns Douglas B, Fink Danielle L, Choi Uimook, Sweeney Colin, Lau Karen, Priel Debra Long, Riva Dara, Mendez Laura, Uzel Gulbu, Freeman Alexandra F, Olivier Kenneth N, Anderson Victoria L, Currens Robin, Mackley Vanessa, Kang Allison, Al-Adeli Mehdi, Mace Emily, Orange Jordan S, Kang Elizabeth, Lockett Stephen J, Chen De, Steinbach Peter J, Hsu Amy P, Zarember Kol A, Malech Harry L, Gallin John I, Holland Steven M
Abstract excerpt
Cell motility, division, and structural integrity depend on dynamic remodeling of the cellular cytoskeleton, which is regulated in part by actin polymerization and depolymerization. In 3 families, we identified 4 children with recurrent infections and varying clinical manifestations including mild neutropenia, impaired wound healing, severe stomatitis with oral stenosis, and death. All patients studied had...
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