SRP54 and a need for a new neutropenia nosology
U Oyarbide, SJ Corey - Blood, The Journal of the American …, 2018 - ashpublications.org
Blood, The Journal of the American Society of Hematology, 2018•ashpublications.org
In fact, after ELANE, mutations in SRP54 are the second most common cause of inherited
neutropenia in the French Congenital Neutropenia Registry. Together with the 3 patients
reported by Carapito et al, 2 the work of Bellann é-Chantelot et al adds to our understanding
of genetic pathways and phenotype correlations of inherited neutropenias, but it raises the
question of how to classify these and other genetic cytopenias: molecular pathway-based
classification or phenotype-based classification?
neutropenia in the French Congenital Neutropenia Registry. Together with the 3 patients
reported by Carapito et al, 2 the work of Bellann é-Chantelot et al adds to our understanding
of genetic pathways and phenotype correlations of inherited neutropenias, but it raises the
question of how to classify these and other genetic cytopenias: molecular pathway-based
classification or phenotype-based classification?
In fact, after ELANE, mutations in SRP54 are the second most common cause of inherited neutropenia in the French Congenital Neutropenia Registry. Together with the 3 patients reported by Carapito et al, 2 the work of Bellann é-Chantelot et al adds to our understanding of genetic pathways and phenotype correlations of inherited neutropenias, but it raises the question of how to classify these and other genetic cytopenias: molecular pathway-based classification or phenotype-based classification?
ashpublications.org