Management of a Patient With Congenital Biallelic CSF3R Mutation With GM-CSF

被引：5
作者：
Karapinar, Deniz Yilmaz [1 ]
Ozdemir, Hamiyet Hekimci [1 ]
Akinci, Burcu [1 ]
Yasar, Akkiz Sahin [1 ]
Sivis, Zuhal Onder [1 ]
Onay, Huseyin [2 ]
Ozkinay, Ferda [2 ]
机构：
[1] Ege Univ, Fac Med, Dept Pediat Hematol, TR-35040 Izmir, Turkey
[2] Ege Univ, Fac Med, Dept Med Genet, Izmir, Turkey
来源：
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2020年 / 42卷 / 03期
关键词：
severe congenital neutropenia; biallelic CSF3R mutation; GM-CSF; sargramostim; SEVERE CHRONIC NEUTROPENIA; STEM-CELL TRANSPLANTATION; COLONY-STIMULATING FACTOR; RISK; EXPERIENCE;
D O I：
10.1097/MPH.0000000000001359
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
Severe Congenital Neutropenia (SCN) is a rare inherited disease characterized by an absolute neutrophil count (ANC) lower than 500/mu L. Genetic heterogeneity and biallelic CSF3R mutation has rarely been identified as an underlying genetic defect in SCN. The majority of SCN patients respond to granulocyte colony stimulating factor treatment; however, in patients with inherited CSF3R mutation, ANC cannot generally be increased with granulocyte colony stimulating factor treatment. In such cases, granulocyte macrophage colony stimulating factor presents as an effective treatment option. Herein, we report a case of a 5-year-old SCN girl with homozygous c610-611 del ins AG (p.Q204R) mutation in the CSF3R gene, who was successfully treated with granulocyte macrophage colony stimulating factor.
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收藏
页码：E164 / E166
页数：3
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