Table 1.

Clinical details

PatientInheritanceDate of
birth		Baseline
neutrophil
count × 109/L		G-CSF
administration		Date of
transformation
to AML		Comment
1 AR Dec 1993 0.15 Never   
2 AR Apr 1988 0.0 Regular Dec 1998 Relapsed 7 months after UD BMT  
3 AR May 1999 0.05 Regular   
4 AD Sep 1975 0.2 Regular   
5* AD May 1989 0.1 Regular   
6* AD Dec 1966 0.1 (Regular)  Poor patient compliance 
7† AD Dec 1988 0.0 Regular   
8† AD Dec 1988 0.09 Regular Feb 1995 Failed to engraft UD BMT; died 9 months later  
9 S Jul 1995 < 0.1 Regular Dec 1999 Remission, 4 months after UD BMT  
10 S Jan 1987 0.04 (Regular)  Now on intermittent G-CSF  
11 S Mar 1999 0.13 Regular   
12 S Feb 1996 < 0.1 Regular  
13 S Aug 1987 0.1 (Regular)  Now off G-CSF; neutrophils 0.5 × 109/L  
14 S Nov 1999 0.0 Regular  
15 S Oct 1987 0.0 Regular  
16 S Oct 1993 0.26 (Regular)  Now on infrequent G-CSF 
17 S May 1989 0.1 Infrequent  Needle phobia; would probably benefit from regular G-CSF  
18 S Aug 1986 0.1 Infrequent   
PatientInheritanceDate of
birth		Baseline
neutrophil
count × 109/L		G-CSF
administration		Date of
transformation
to AML		Comment
1 AR Dec 1993 0.15 Never   
2 AR Apr 1988 0.0 Regular Dec 1998 Relapsed 7 months after UD BMT  
3 AR May 1999 0.05 Regular   
4 AD Sep 1975 0.2 Regular   
5* AD May 1989 0.1 Regular   
6* AD Dec 1966 0.1 (Regular)  Poor patient compliance 
7† AD Dec 1988 0.0 Regular   
8† AD Dec 1988 0.09 Regular Feb 1995 Failed to engraft UD BMT; died 9 months later  
9 S Jul 1995 < 0.1 Regular Dec 1999 Remission, 4 months after UD BMT  
10 S Jan 1987 0.04 (Regular)  Now on intermittent G-CSF  
11 S Mar 1999 0.13 Regular   
12 S Feb 1996 < 0.1 Regular  
13 S Aug 1987 0.1 (Regular)  Now off G-CSF; neutrophils 0.5 × 109/L  
14 S Nov 1999 0.0 Regular  
15 S Oct 1987 0.0 Regular  
16 S Oct 1993 0.26 (Regular)  Now on infrequent G-CSF 
17 S May 1989 0.1 Infrequent  Needle phobia; would probably benefit from regular G-CSF  
18 S Aug 1986 0.1 Infrequent   

AR indicates autosomal recessive; UD BMT, unrelated donor bone marrow transplantation; AD, autosomal dominant; (Regular), previous prophylactic G-CSF usage, now superseded by intermittent use only; S, sporadic.

*

Members of family A.

†

Members of family B.

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