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Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1 by Julien Record, Dessislava Malinova, Helen L. Zenner, Vincent Plagnol, Karolin Nowak, Farhatullah Syed, Gerben Bouma, James Curtis, Kimberly Gilmour, Catherine Cale, Scott Hackett, Guillaume Charras, Dale Moulding, Sergey Nejentsev, Adrian J. Thrasher, and Siobhan O. Burns Blood Volume 126(13):1527-1535 September 24, 2015 ©2015 by American Society of Hematology Patient neutrophils display phagocytosis and migration defects. Julien Record et al. Blood 2015;126:1527-1535 ©2015 by American Society of Hematology Effect of MKL1 mutation on F-actin. Julien Record et al. Blood 2015;126:1527-1535 ©2015 by American Society of Hematology Knockdown of MKL1 in HL-60 neutrophil-like cells mimics patient phenotype. Julien Record et al. Blood 2015;126:1527-1535 ©2015 by American Society of Hematology Patient PBMC-derived DCs have morphologic abnormalities and severely reduced F-actin content. Julien Record et al. Blood 2015;126:1527-1535 ©2015 by American Society of Hematology Knockdown of MKL1 alters fibroblast morphology and migration. Julien Record et al. Blood 2015;126:1527-1535 ©2015 by American Society of Hematology MKL1-deficient dHL-60 cells show lower content in F-actin. Julien Record et al. Blood 2015;126:1527-1535 ©2015 by American Society of Hematology MKL1-deficient dHL-60 cells show impaired uropod retraction associated with downregulation of MYL9. Julien Record et al. Blood 2015;126:1527-1535 ©2015 by American Society of Hematology
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