Mosaicism of an ELANE Mutation in an Asymptomatic Mother.
Tomonari ShigemuraNorimoto KobayashiKazunaga AgematsuOsamu OharaYozo NakazawaPublished in: Journal of clinical immunology (2019)
These observations strongly suggest that mutant-carrying neutrophils did not appear in the mother's PB because mutated clones could not differentiate into neutrophils. The mother's normal hematological phenotype could be explained by the perseverance of normal, non-mutated granulopoiesis.
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