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

• Published in: Journal of pediatric hematology/oncology Vol. 42; no. 3; p. e164
• Main Authors: Yilmaz Karapinar, Deniz, Özdemir, Hamiyet Hekimci, Akinci, Burcu, Yaşar, Akkiz Şahin, Siviş, Zuhal Önder, Onay, Hüseyin, Özkinay, Ferda
• Format: Journal Article
• Language: English
• Published: United States 01.04.2020
• Subjects: Child, Preschool; Congenital Bone Marrow Failure Syndromes - drug therapy; Congenital Bone Marrow Failure Syndromes - genetics; Female; Granulocyte-Macrophage Colony-Stimulating Factor - therapeutic use; Humans; Immunologic Factors - therapeutic use; Mutation; Neutropenia - congenital; Neutropenia - drug therapy; Neutropenia - genetics; Receptors, Colony-Stimulating Factor - genetics; Recombinant Proteins - therapeutic use
• ISSN: 1536-3678
• DOI: 10.1097/MPH.0000000000001359

Severe Congenital Neutropenia (SCN) is a rare inherited disease characterized by an absolute neutrophil count (ANC) lower than 500/μL. 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.