Congenital Neutropenia Patient With Hypomorphic Biallelic CSF3R Mutation Responding to GCSF
Makaleler > Tam Makale · 2019
Yazarlar: Deniz YILMAZ KARAPINAR, Burcu Akinci, Akkiz Sahin Yasar, HAMİYET HEKİMCİ ÖZDEMİR, Zuhal Onder Sivis, HÜSEYİN ONAY, Feriştah Ferda ÖZKINAY
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2019, cilt 41, ss e190-e192
DOI: 10.1097/mph.0000000000001258
Özet
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.