Efficacy of Low-Dose rhGM-CSF Treatment in a Patient With Severe Congenital Neutropenia Due to CSF3R Deficiency: Case Report of a Novel Biallelic CSF3R Mutation and Literature Review

被引：1

作者：

Zhou, Junli ^{[1
,2
,3
]}

Sun, Chengjun ^{[4
]}

Huang, Honglin ^{[1
,2
,3
]}

Zhu, Qiguo ^{[1
,2
,3
]}

Wen, Fengyun ^{[1
,2
,3
]}

Dong, Ying ^{[1
,2
,3
]}

Wang, Hongsheng ^{[5
]}

机构：

[1] Fudan Univ, Xiamen Childrens Hosp, Childrens Hosp, Dept Cardiol, Xiamen, Peoples R China

[2] Fudan Univ, Xiamen Childrens Hosp, Childrens Hosp, Dept Endocrine, Xiamen, Peoples R China

[3] Fudan Univ, Xiamen Childrens Hosp, Childrens Hosp, Dept Hematol & Nephrol, Xiamen, Peoples R China

[4] Fudan Univ, Childrens Hosp, Childrens Natl Med Ctr, Dept Endocrinol & Inherited Metab Dis, Shanghai, Peoples R China

[5] Fudan Univ, Childrens Hosp, Childrens Natl Med Ctr, Dept Hematol, Shanghai, Peoples R China

来源：

FRONTIERS IN PEDIATRICS | 2021年 / 9卷

关键词：

severe congenital neutropenia; biallelic heterozygous; CSF3R; rhGM-CSF; treatment; COLONY-STIMULATING FACTOR; GM-CSF; GRANULOCYTE; DOMAIN;

D O I：

10.3389/fped.2021.746159

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

This study reports the clinical manifestations, genetics, and efficacy of treatment with the efficacy of recombinant human granulocyte macrophage colony-stimulating factor (rhGM-GSF) of a 2-year-old female patient with severe congenital neutropenia (SCN) type 7 (SCN7) caused by novel biallelic mutations in the colony-stimulating factor 3 receptor (CSF3R) gene. Genetic diagnosis of the patient was performed by whole-exome and Sanger sequencing. Expression of the CSF3R gene in the peripheral neutrophils of the patient was detected by real-time PCR and Western blotting. The patient presented with recurrent suppurative tonsillitis and decreased absolute neutrophil count <0.5 x 10(9)/L. Novel heterozygous mutations were found to be inherited from each parent (maternal c.690delC [p.met231Cysfs*32] and paternal c.64+5G>A). The patient's neutrophils had lower CSF3R mRNA and protein levels than those of the parents. Low-dose rhGM-CSF (3 mu g/kg/day once a week) prevented recurrent infection in the patient. These results demonstrate that the clinical manifestations of SCN7 with biallelic CSF3R mutations and downregulated CSF3R can be effectively treated with rhGM-CSF.</p>

引用

页数：7