Management of a Patient With Congenital Biallelic CSF3R Mutation With GM-CSF
Küçük Resim Yok
Tarih
2020
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Lippincott Williams & Wilkins
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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.
Açıklama
Anahtar Kelimeler
severe congenital neutropenia, biallelic CSF3R mutation, GM-CSF, sargramostim
Kaynak
Journal of Pediatric Hematology Oncology
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
42
Sayı
3
