Table 3.

Description of patients needed second interventions, including genetic background, comorbidities, second intervention characteristics, and outcomes

P10P12P21P25P40P41
CGD gp91 p67 gp91 gp91 gp91 p22 
Comorbidities Colitis
Perianal disease
Lung involvement 
Colitis Lung involvement Lung involvement
Liver abscess 
Colitis
Perianal disease 
Lung involvement
Colitis
Perianal disease 
Age at first HSCT (years) 11.4 3.2 4.4 7.2 6.4 13.2 
Donor MUD MUD MUD MSD MUD MUD 
Source BM PBSC PBSC BM PBSC PBSC 
Conditioning Camp/Bu/Cy (MAC) Camp/Flu/Treo (RIC) Camp/Flu/Melph (RIC) Bu/Cy (RIC) Camp/Flu/Treo (RIC) Camp/Flu/Treo (RIC) 
aGvHD/cGvHD No/Yes No/No Yes/Yes No/No Yes/yes No/No 
Type of second intervention DLI (1 × 107/kg) Second HSCT DLI (1 × 106/kg) Second HSCT Gene therapy Second HSCT DLI (1, 5, 10 × 107/kg) DLI (1 × 107/kg) DLI (1, 5 × 107/kg) 
Time from first HSCT to second intervention (years) 1.7 3.3 0.3 1.6 1.3 3.9 9.8 1.4 
Cause of second intervention Declined in donor chimerism Declined in donor chimerism Declined in donor chimerism Declined in donor chimerism Secondary graft failure Persistent graft failure post gene therapy Declined in donor chimerism Declined in donor chimerism Declined in donor chimerism 
CGD-related disease before second intervention Relapse of colitis Relapse of colitis None None De novo colitis
Recurrence of lung involvement 
None De novo perianal fistulizing disease No No 
Chimerism at second intervention WB 19% WB 11% CD3 61%
CD15 29% 
CD3 58%
CD15 0% 
WB 0% WB 0% CD3 48%
CD15 23% 
CD3 59%
CD15 19% 
CD3 57%
CD15 11% 
Age at second intervention (years) 13.1 14.8 3.5 4.7 5.7 8.3 17 7.4 14.6 
If second HSCT, specify donor-source-conditioning-aGvHD/cGvHD MMUD-PBSC- Camp/Flu/Treo (RIC)
No/Yes 
MUD-PBSC-Camp/Flu/Bu (MAC)
Yes (stage-II skin)/No 
MUD-PBSC-Camp/Bu/Cy (RIC)
Yes/Yes (eyes and skin-limited sclerodermatous) 
CGD-related disease after second intervention None None None Fistulizing disease None None 
On IS at last FU No No No No No No 
Chimerism at last FU WB 100%, CD15 100% CD3 100%, CD15 100% CD3 100%, CD15 100% CD3 51%, CD15 100% CD3 100%, CD15 100% CD3 59%, CD15 10%; patient declined second transplant 
P10P12P21P25P40P41
CGD gp91 p67 gp91 gp91 gp91 p22 
Comorbidities Colitis
Perianal disease
Lung involvement 
Colitis Lung involvement Lung involvement
Liver abscess 
Colitis
Perianal disease 
Lung involvement
Colitis
Perianal disease 
Age at first HSCT (years) 11.4 3.2 4.4 7.2 6.4 13.2 
Donor MUD MUD MUD MSD MUD MUD 
Source BM PBSC PBSC BM PBSC PBSC 
Conditioning Camp/Bu/Cy (MAC) Camp/Flu/Treo (RIC) Camp/Flu/Melph (RIC) Bu/Cy (RIC) Camp/Flu/Treo (RIC) Camp/Flu/Treo (RIC) 
aGvHD/cGvHD No/Yes No/No Yes/Yes No/No Yes/yes No/No 
Type of second intervention DLI (1 × 107/kg) Second HSCT DLI (1 × 106/kg) Second HSCT Gene therapy Second HSCT DLI (1, 5, 10 × 107/kg) DLI (1 × 107/kg) DLI (1, 5 × 107/kg) 
Time from first HSCT to second intervention (years) 1.7 3.3 0.3 1.6 1.3 3.9 9.8 1.4 
Cause of second intervention Declined in donor chimerism Declined in donor chimerism Declined in donor chimerism Declined in donor chimerism Secondary graft failure Persistent graft failure post gene therapy Declined in donor chimerism Declined in donor chimerism Declined in donor chimerism 
CGD-related disease before second intervention Relapse of colitis Relapse of colitis None None De novo colitis
Recurrence of lung involvement 
None De novo perianal fistulizing disease No No 
Chimerism at second intervention WB 19% WB 11% CD3 61%
CD15 29% 
CD3 58%
CD15 0% 
WB 0% WB 0% CD3 48%
CD15 23% 
CD3 59%
CD15 19% 
CD3 57%
CD15 11% 
Age at second intervention (years) 13.1 14.8 3.5 4.7 5.7 8.3 17 7.4 14.6 
If second HSCT, specify donor-source-conditioning-aGvHD/cGvHD MMUD-PBSC- Camp/Flu/Treo (RIC)
No/Yes 
MUD-PBSC-Camp/Flu/Bu (MAC)
Yes (stage-II skin)/No 
MUD-PBSC-Camp/Bu/Cy (RIC)
Yes/Yes (eyes and skin-limited sclerodermatous) 
CGD-related disease after second intervention None None None Fistulizing disease None None 
On IS at last FU No No No No No No 
Chimerism at last FU WB 100%, CD15 100% CD3 100%, CD15 100% CD3 100%, CD15 100% CD3 51%, CD15 100% CD3 100%, CD15 100% CD3 59%, CD15 10%; patient declined second transplant 

Bu, busulfan; Camp, Campath; Cy, cyclophosphamide; Flu, fludarabine; FU, follow-up; Melph, melphalan; Treo, treosulfan.

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