Table 1.

Characteristics of all patients

MC status/
patient no.		MutationYear of
HST		Age at
HST		Nucleated cells
transplanted,
no.		Donor/
transplant
type*		HLA
compatibility		Conditioning
regimen		GVHD
prophylaxis		Acute
GVHD
grade		Chronic
GVHD
With MC status
after HST 		          
 1 1 base deletion exon 9† 2001 4 mo 7.5 × 108 U/CBT 5/6 matched TBI, BuCy, ATG CsA, Mtx 0 No  
 2 Missense exon 4 (Ala134-Val) 2000 1 y 2 mo 1.42 × 108 U/CBT 5/6 matched TBI, Cy, ATG Mtx, FK506 1 No  
 3 1 base deletion exon/intron 11;
abnormal splice skip exon 11 		1999 1 y 2 mo 8.9 × 108 R/BMT 6/6 matched BuCy, ATG CsA, Mtx 0 No  
 4 1 base deletion exon 10† 2001 2 y 2.45 × 108 U/BMT 6/6 matched TBI, BuCy, ATG Mtx, FK506 0 No  
 5 Large deletion 1999 1 y 7 mo 4.8 × 108 U/BMT 5/6 matched TBI, Cy, ATG Mtx, FK506 0 Yes  
 6 Nonsense exon 7
(Arg211-stop)‡ 		1998 1 y 1 mo 3.34 × 109 U/BMT 6/6 matched BuCy, ATG CsA, Mtx 0 No  
Without MC
status
after HST 		          
 7 2 bases deletion exon 1 2000 9 mo 8.8 × 108 U/CBT 5/6 matched TBI, BuCy, ATG CsA, PDN 1 No  
 8 Missense exon 2 (Ile85-Thr)‡ 2000 4 y 7 mo 4.2 × 108 U/BMT 6/6 matched TBI, BuCy, ATG Mtx, FK506 3 Yes  
 9 Missense exon 1 (Glu31-Lys)‡ 1998 1 y 3 mo 7.0 × 108 U/CBT 6/6 matched BuCy CsA, Mtx 1 Yes  
 10 Missense exon 1 (Glu31-Lys)‡ 1996 1 y 7 mo 8.9 × 108 R/BMT Compatible BuCy CsA, Mtx 0 No  
 11 1 base deletion exon 1‡ 1995 4 y 3 mo 8.5 × 109 R/BMT 6/6 matched BuCy, ATG CsA, Mtx 0 No  
 12 2 bases deletion exon 1 2001 7 mo 2.9 × 108 U/CBT 6/6 matched BuCy, ATG CsA, PDN 0 No 
MC status/
patient no.		MutationYear of
HST		Age at
HST		Nucleated cells
transplanted,
no.		Donor/
transplant
type*		HLA
compatibility		Conditioning
regimen		GVHD
prophylaxis		Acute
GVHD
grade		Chronic
GVHD
With MC status
after HST 		          
 1 1 base deletion exon 9† 2001 4 mo 7.5 × 108 U/CBT 5/6 matched TBI, BuCy, ATG CsA, Mtx 0 No  
 2 Missense exon 4 (Ala134-Val) 2000 1 y 2 mo 1.42 × 108 U/CBT 5/6 matched TBI, Cy, ATG Mtx, FK506 1 No  
 3 1 base deletion exon/intron 11;
abnormal splice skip exon 11 		1999 1 y 2 mo 8.9 × 108 R/BMT 6/6 matched BuCy, ATG CsA, Mtx 0 No  
 4 1 base deletion exon 10† 2001 2 y 2.45 × 108 U/BMT 6/6 matched TBI, BuCy, ATG Mtx, FK506 0 No  
 5 Large deletion 1999 1 y 7 mo 4.8 × 108 U/BMT 5/6 matched TBI, Cy, ATG Mtx, FK506 0 Yes  
 6 Nonsense exon 7
(Arg211-stop)‡ 		1998 1 y 1 mo 3.34 × 109 U/BMT 6/6 matched BuCy, ATG CsA, Mtx 0 No  
Without MC
status
after HST 		          
 7 2 bases deletion exon 1 2000 9 mo 8.8 × 108 U/CBT 5/6 matched TBI, BuCy, ATG CsA, PDN 1 No  
 8 Missense exon 2 (Ile85-Thr)‡ 2000 4 y 7 mo 4.2 × 108 U/BMT 6/6 matched TBI, BuCy, ATG Mtx, FK506 3 Yes  
 9 Missense exon 1 (Glu31-Lys)‡ 1998 1 y 3 mo 7.0 × 108 U/CBT 6/6 matched BuCy CsA, Mtx 1 Yes  
 10 Missense exon 1 (Glu31-Lys)‡ 1996 1 y 7 mo 8.9 × 108 R/BMT Compatible BuCy CsA, Mtx 0 No  
 11 1 base deletion exon 1‡ 1995 4 y 3 mo 8.5 × 109 R/BMT 6/6 matched BuCy, ATG CsA, Mtx 0 No  
 12 2 bases deletion exon 1 2001 7 mo 2.9 × 108 U/CBT 6/6 matched BuCy, ATG CsA, PDN 0 No 

U indicates unrelated; TBI, total-body irradiation; Bu, busulfan; Cy, cyclophosphamide; ATG, antithymocyte globulin; CsA, cyclosporin A; Mtx, methotrexate; FK506, tacrolimus hydrate; R, related; and PDN, prednisone.

*

Related donors were noncarrier mother for patient 3, noncarrier sister for patient 10, and carrier mother for patient 11.

†

Novel mutation.

‡

Mutation previously reported by us.

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