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. 2022 Nov;42(8):1608-1610.
doi: 10.1007/s10875-022-01336-z. Epub 2022 Jul 20.

First Successful Allogeneic Hematopoietic Stem Cell Transplantation for MKL1 Deficiency

Sanne Oegema  1 , Stefanie S V Henriet  2 , Koen J van Aerde  2 , Robbert G M Bredius  1 , Dagmar Berghuis  3
Affiliations

First Successful Allogeneic Hematopoietic Stem Cell Transplantation for MKL1 Deficiency

Sanne Oegema et al. J Clin Immunol. 2022 Nov.
No abstract available

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References

    1. Record J, Malinova D, Zenner HL, Plagnol V, Nowak K, Syed F, et al. Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1. Blood. 2015;126(13):1527–35. - DOI - PubMed - PMC
    1. Sprenkeler EGG, Henriet SSV, Tool ATJ, Kreft IC, van der Bijl I, Aarts CEM, et al. MKL1 deficiency results in a severe neutrophil motility defect due to impaired actin polymerization. Blood. 2020;135(24):2171–81. - DOI - PubMed
    1. Smith EC, Thon JN, Devine MT, Lin S, Schulz VP, Guo Y, et al. MKL1 and MKL2 play redundant and crucial roles in megakaryocyte maturation and platelet formation. Blood. 2012;120(11):2317–29. - DOI - PubMed - PMC
    1. Cheng EC, Luo Q, Bruscia EM, Renda MJ, Troy JA, Massaro SA, et al. Role for MKL1 in megakaryocytic maturation. Blood. 2009;113(12):2826–34. - DOI - PubMed - PMC

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