Table 1 Patient Characteristics

Patient characteristics

 Sex (male/female)

10/15

(40/60)

 Ethnicity (caucasian)

23

92

Donor characteristics

 Source (CB/BM)

3/22

(12/88)

 Relation (related)

8

(32)

 Carrier status (carrier)

6

(24)

Transplantation characteristics

 Number of transplantations (1/2/3)^a

23/1/1

(92/4/4)

 Year of transplantation

1999

(1986–2011)

 Post-HSCT ERT/peri-transplantation ERT

5/3

(20/12)

 Donor chimerism (full)

18

(72)

 HLA (identical)

14

(56)

Post-transplantation

 GVHD acute

9

(36)

 GVHD chronic

0

(0)

 Alopacie

3

(12)

 Infection (viral/bacterial)

4/4

(16/16)

 Death*

1

(4)

Genotype

 W402X/W402X

9

(36)

 W402X/Q70X

6

(24)

 W402X/Y581X

1

(4)

 W402X/134del12

1

(4)

 W402X/c.50_61del12

1

(4)

 W402X/1124 del C

1

(4)

 Q70X/c.792 + 1G > A in intron 5

1

(4)

 Q70X/c.1190-10C > A

1

(4)

 Q70X/A327P

1

(4)

 P533R/c.1273_1274insC

1

(4)

 1041_1042 del CA/1041_1042 del CA

1

(4)

 ND in USA

1

(4)

Follow-up post HSCT (years)

 7–10

3

(12)

 11–15

3

(12)

 16–20

10

(40)

 21–25

5

(20)

 25+

4

(16)

Age at last follow-up (years)

19

[8, 36]

Age onset of symptom (months) [range]

3

[0–16]

Age diagnosis (months) [range]

10

[2, 34]

Age HSCT (months) [range]

21

[12, 57]