Published in
American Society of Hematology, Blood, 13(126), p. 1527-1535, 2015
DOI: 10.1182/blood-2014-12-611012
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Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1
Journal article published in 2015 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 other authors.
,
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 other authors.
This paper is made freely available by the publisher.
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Abstract
Key PointsMKL1 deficiency results in actin cytoskeletal disruption in myeloid and lymphoid cell lineages. MKL1 deficiency impairs neutrophil migration associated with downregulation of myosin II.