Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2

BACKGROUND: SMARCD2 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 2) has recently been shown to have a critical role in granulopoiesis in humans, mice, and zebrafish. Our patient presented with delayed cord separation, failure to thrive, and sepsis....

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Detalles Bibliográficos
Autores principales: Schim van der Loeff, Ina, Sprenkeler, Evelien G.G., Tool, Anton T.J., Abinun, Mario, Grainger, Angela, Engelhardt, Karin R., van Houdt, Michel, Janssen, Hans, Kuijpers, Taco W., Hambleton, Sophie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mosby 2021
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8168953/
https://www.ncbi.nlm.nih.gov/pubmed/33279574
http://dx.doi.org/10.1016/j.jaci.2020.11.025

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8168953/
https://www.ncbi.nlm.nih.gov/pubmed/33279574
http://dx.doi.org/10.1016/j.jaci.2020.11.025

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