Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis

By
Justin.choi
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Scientists report a new patient with a novel frameshift mutation and compared this patient with the previously reported SMARCD2-mutant patients, aiming to provide a more comprehensive understanding of the natural course of the disease.
[Journal of Clinical Immunology]
Yucel, E., Karakus, I. S., Krolo, A., Kiykim, A., Heredia, R. J., Tamay, Z., Cipe, F. E., Karakoc-Aydiner, E., Ozen, A., Karaman, S., Boztug, K., & Baris, S. (2020). Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis. Journal of Clinical Immunology. https://doi.org/10.1007/s10875-020-00878-4 Cite
Abstract