Table 1

Absolute neutrophil counts in SCN children receiving G-CSF

Patient IDAge at diagnosisELA2NE amino acidG-CSF, μg/kgANC, × 109 cells/L
At diagnosisAfter therapy
P1 2 mo 4924G>A G185R 40 0.03 0.03 
P2 10 d 4924G>A G185R 20 0.1 0.84 
P3 8 d 4899del P176fs × 182 <0.01 3.6 
P4 4 mo 1903-1926del N34-H41del 0.07 1.9 
P5 3 mo 4498C>A A98D <0.01 0.8 
Patient IDAge at diagnosisELA2NE amino acidG-CSF, μg/kgANC, × 109 cells/L
At diagnosisAfter therapy
P1 2 mo 4924G>A G185R 40 0.03 0.03 
P2 10 d 4924G>A G185R 20 0.1 0.84 
P3 8 d 4899del P176fs × 182 <0.01 3.6 
P4 4 mo 1903-1926del N34-H41del 0.07 1.9 
P5 3 mo 4498C>A A98D <0.01 0.8 

Nucleotide position is given according to sequence GenBank Y00477. Amino acid numbers begin from the first residue after the presignal peptide cleavage.

del indicates deletion; fs, frameshift.

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