Table 1. Characteristics of patients... | American Society of Hematology

Table 1.

Characteristics of patients with congenital neutropenia

Subject	Age (y)	Gender	ANC^1-1/ mm^1-3	AMC^1-2/ mm^1-3	Platelets^1-3× 10^1-3/mm^1-3	HCT^1-4%	Bone marrow evaluations^1-5						Elastase mutations
Subject	Age (y)	Gender	ANC^1-1/ mm^1-3	AMC^1-2/ mm^1-3	Platelets^1-3× 10^1-3/mm^1-3	HCT^1-4%	Mblast %	Promyelo %	Myelo %	Meta %	B/Poly %	Exon/intron	Nucleotide^1-6	Effect on protein^1-7
1	4	M	0	2943	558	36	Severe maturation arrest					Exon 2	G34010A	A28T
2	13	M	0	1891	348	32	2	5	23	7	2	Exon 2	T34020C	I31T
3	15	F	106	1484	349	36	0	6	0	0	1	Exon 2	T34052A	C42S
4	3	F	97	2928	547	30	Arrest at myelocyte, very few mature neutrophils					Exon 3	G34371A	V72M
5	8	F	126	1071	513	27	0	5	7	0	0	Exon 3	G34371A	V72M
6	11	M	0	5372	576	29	0	7	1	0	1	Exon 4	C15823T	S97L
7	3	F	79	2196	546	30	0	2	7	2	0	Exon 4	C15862T	P110L
8	15	F	159	599	403	37	0	21	19	0	0	Exon 4	C15862T	P110L
9	25	M	215	320	214	39	3	8	21	11	4	Exon 4	C15862T	P110L
10	33	F	220	740	227	32	0	4	6	2	4	Exon 4	C15862T	P110L
11	14	M	96	1088	320	25	3	11	2	0	0	Exon 4	ins5T16063	delV161-F170 +2fs
12	18	F	33	990	483	36	0	10	1	2	0	Exon 4	del15995-16018	delV145-C152
13	4	F	0	3943	639	43	Not done					Exon 5	G16268T	G181V
14	10	F	0	1610	650	34	0	9	0	0	0	Exon 5	G16279A	G185R
15	0.4	M	34	3041	272	39	3	1	1	0	1	Exon 5	G16300T	G192Stop
16	4	M	318	504	534	35	1	10	26	15	6	Exon 5	C16313A	S196Stop
17	3	F	200	4300	722	26	Not done					Exon 5	C16323A	Y199Stop
18	5	M	0	1797	345	34	Not done					Exon 5	delC16324	Minus 1fs
19	26	F	58	1218	427	37	3	6	1	0	2	Exon 5	delC16340	Minus 1fs
20	21	M	272	318	418	37	1	4	16	1	1	Intron 3	C15805A	(ivs3 −8sa) insPQ94
21	1	F	0	1243	501	29	3	2	15	9	12	Intron 4	G16073A	(ivs4 +1sd)del V161-F170
22	33	M	124	990	235	45	6	6	4	0	0	Intron 4	G16077A	(ivs4 +5sd)del V161-F170
23	20	M	0	1449	413	34	3	9	13	3	0		no mutation
24	50	M	199	39	150	44	0	2	2	0	1		no mutation
25	14	M	330	465	281	37	Not done						no mutation
Mean	14		112	1489	415	35	1	7	9	3	2
SE	2		21	227	31	1	0	1	2	1	1
^1-aNormal data
Mean			3563	571	242	43	1	3	11	11	25
SE			171	49	9	1	0	0	1	0	1

Subject	Age (y)	Gender	ANC^1-1/ mm^1-3	AMC^1-2/ mm^1-3	Platelets^1-3× 10^1-3/mm^1-3	HCT^1-4%	Bone marrow evaluations^1-5						Elastase mutations
Subject	Age (y)	Gender	ANC^1-1/ mm^1-3	AMC^1-2/ mm^1-3	Platelets^1-3× 10^1-3/mm^1-3	HCT^1-4%	Mblast %	Promyelo %	Myelo %	Meta %	B/Poly %	Exon/intron	Nucleotide^1-6	Effect on protein^1-7
1	4	M	0	2943	558	36	Severe maturation arrest					Exon 2	G34010A	A28T
2	13	M	0	1891	348	32	2	5	23	7	2	Exon 2	T34020C	I31T
3	15	F	106	1484	349	36	0	6	0	0	1	Exon 2	T34052A	C42S
4	3	F	97	2928	547	30	Arrest at myelocyte, very few mature neutrophils					Exon 3	G34371A	V72M
5	8	F	126	1071	513	27	0	5	7	0	0	Exon 3	G34371A	V72M
6	11	M	0	5372	576	29	0	7	1	0	1	Exon 4	C15823T	S97L
7	3	F	79	2196	546	30	0	2	7	2	0	Exon 4	C15862T	P110L
8	15	F	159	599	403	37	0	21	19	0	0	Exon 4	C15862T	P110L
9	25	M	215	320	214	39	3	8	21	11	4	Exon 4	C15862T	P110L
10	33	F	220	740	227	32	0	4	6	2	4	Exon 4	C15862T	P110L
11	14	M	96	1088	320	25	3	11	2	0	0	Exon 4	ins5T16063	delV161-F170 +2fs
12	18	F	33	990	483	36	0	10	1	2	0	Exon 4	del15995-16018	delV145-C152
13	4	F	0	3943	639	43	Not done					Exon 5	G16268T	G181V
14	10	F	0	1610	650	34	0	9	0	0	0	Exon 5	G16279A	G185R
15	0.4	M	34	3041	272	39	3	1	1	0	1	Exon 5	G16300T	G192Stop
16	4	M	318	504	534	35	1	10	26	15	6	Exon 5	C16313A	S196Stop
17	3	F	200	4300	722	26	Not done					Exon 5	C16323A	Y199Stop
18	5	M	0	1797	345	34	Not done					Exon 5	delC16324	Minus 1fs
19	26	F	58	1218	427	37	3	6	1	0	2	Exon 5	delC16340	Minus 1fs
20	21	M	272	318	418	37	1	4	16	1	1	Intron 3	C15805A	(ivs3 −8sa) insPQ94
21	1	F	0	1243	501	29	3	2	15	9	12	Intron 4	G16073A	(ivs4 +1sd)del V161-F170
22	33	M	124	990	235	45	6	6	4	0	0	Intron 4	G16077A	(ivs4 +5sd)del V161-F170
23	20	M	0	1449	413	34	3	9	13	3	0		no mutation
24	50	M	199	39	150	44	0	2	2	0	1		no mutation
25	14	M	330	465	281	37	Not done						no mutation
Mean	14		112	1489	415	35	1	7	9	3	2
SE	2		21	227	31	1	0	1	2	1	1
^1-aNormal data
Mean			3563	571	242	43	1	3	11	11	25
SE			171	49	9	1	0	0	1	0	1

F1-a

Healthy volunteers = 39 subjects—21 males and 18 females.

F1-1

ANC = Absolute neutrophil count. Measurement is the median of baseline counts.

F1-2

AMC = Absolute monocyte count. Measurement is the median of baseline counts.

F1-3

Measurement is the median of baseline counts.

F1-4

Measurement is the median of baseline counts.

F1-5

Mblast indicates myeloblast; Promyelo, promyelocyte; Myelo, Myelocyte; Meta, metamyelocyte; B/Polys, bands + polymorphonuclear cells.

F1-6

Position of nucleotides for subjects 1-5 (mutations in exon 1-3) corresponds to GenBank AC004799 and for subjects 6-21 (mutations in intron 3-exon 5) to GenBank AC010648.

F1-7

Numbering of splice site mutations is relative to the intron (negative)/exon (positive) boundary. Amino acid numbering begins from the first amino acid after the presignal peptide cleavage.

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

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