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- W2884291914 abstract "Congenital neutropenia (CN) is a rare disorder, and the most common gene responsible for CN is ELANE . Furthermore, the mutations of HAX1 , G6PC3 , and JAGN1 genes may cause CN. These patients generally find great benefit from subcutaneous administration of Granulocyte Colony Stimulating Factor (GCSF). In recent years, Biallelic Colony Stimulating Factor 3 Receptor ( CSF3R ) mutations have been described as an underlying defect of CN in several children. In contrast to the previous group, the patients who have a CSF3R mutation do not respond to GCSF treatment. Here, we present a CN patient with hypomorphic biallelic CSF3R mutation responding to GCSF." @default.
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- W2884291914 date "2019-04-01" @default.
- W2884291914 modified "2023-10-18" @default.
- W2884291914 title "Congenital Neutropenia Patient With Hypomorphic Biallelic CSF3R Mutation Responding to GCSF" @default.
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- W2884291914 doi "https://doi.org/10.1097/mph.0000000000001258" @default.
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