Table 2. Characteristics of patients... | American Society of Hematology

Table 2.

Characteristics of patients with cyclic neutropenia and Shwachman-Diamond syndrome

Subject	Age (y)	Gender	ANC^2-1/mm^2-3	AMC^2-2/mm^2-3	Platelets^2-3× 10^2-3/mm^2-3	HCT^2-4%	Elastase mutations
Subject	Age (y)	Gender	ANC^2-1/mm^2-3	AMC^2-2/mm^2-3	Platelets^2-3× 10^2-3/mm^2-3	HCT^2-4%	Exon/intron	Nucleotide^2-5	Effect on protein^2-6
Cyclic neutropenia (sporadic cases)
1	23	M	246	928	330	41	Intron 4	G16073A	(ivs4 +1sd) delV161-F170
2	26	M	122	740	255	35	Intron 4	G16073A	(ivs4 +1sd) delV161-F170
3	4	F	178	816	416	33	Exon 4	C15862T	P110L
4	10	F	109	53	421	34	Intron 4	G16073A	(ivs4 +1sd) del V161-F170
Mean	16		164	634	356	36
SE	6		36	228	46	2
Shwachman-Diamond syndrome
1	4	M	201	206	191	22	No mutation
2	8	F	324	215	120	36	No mutation
3	4	F	452	339	299	32	No mutation
Mean	5		326	253	203	30
SE	2		89	53	64	5

Subject	Age (y)	Gender	ANC^2-1/mm^2-3	AMC^2-2/mm^2-3	Platelets^2-3× 10^2-3/mm^2-3	HCT^2-4%	Elastase mutations
Subject	Age (y)	Gender	ANC^2-1/mm^2-3	AMC^2-2/mm^2-3	Platelets^2-3× 10^2-3/mm^2-3	HCT^2-4%	Exon/intron	Nucleotide^2-5	Effect on protein^2-6
Cyclic neutropenia (sporadic cases)
1	23	M	246	928	330	41	Intron 4	G16073A	(ivs4 +1sd) delV161-F170
2	26	M	122	740	255	35	Intron 4	G16073A	(ivs4 +1sd) delV161-F170
3	4	F	178	816	416	33	Exon 4	C15862T	P110L
4	10	F	109	53	421	34	Intron 4	G16073A	(ivs4 +1sd) del V161-F170
Mean	16		164	634	356	36
SE	6		36	228	46	2
Shwachman-Diamond syndrome
1	4	M	201	206	191	22	No mutation
2	8	F	324	215	120	36	No mutation
3	4	F	452	339	299	32	No mutation
Mean	5		326	253	203	30
SE	2		89	53	64	5

ANC indicates absolute neutrophil count. Measurement is the median of baseline counts.

AMC indicates absolute monocyte count. Measurement is the median of baseline counts.

Measurement is the median of baseline counts.

Measurement is the median of baseline counts.

Positon of nucleotides for subjects 1-4 (mutations in intron 3-exon 5) corresponds to GenBank AC010648.

ns indicates insertion; del, deletion; ivs, intervening sequence; sa, splice acceptor; sd, splice donor; fs, frame shift.

Numbering is relative to the intron (negative)/exon (positive) boundary.

Amino acid numbering begins from the first amino acid after the presignal peptide cleavage.