Patient characteristics
| Patient no. . | Age, y . | Indication for gene therapy . | Mutation . | Infection history . | Medical treatment before and during gene therapy . |
|---|---|---|---|---|---|
| 1 | 28 | Staphylococcal liver abscess | 461delA; N154fsX160 (frameshift) | Recurrent infections including previous bacterial abscesses of the liver | Intravenous meropenem, vancomycin, and linezolid |
| 2 | 28 | Paecilomyces chest wall infection | 4 nucleotide deletion that spans splice site 1150_E9(+2)delAA/gt, deletion of Exon 9 in mRNA | Recurrent pneumonias requiring thoracotomies | Intravenous ambisome then intravenous voriconazole, switched to posaconazole and 5 Fluorocytosine, then caspofungin added |
| 3 | 19 | Aspergillus lung infection | Nonsense mutation: C217A; R73X | Prior Aspergillus lung infection, Burkholderia and Bartonella infections, and osteomyelitis | Intravenous ambisome, then treated with voriconazole and micafungin |
| Patient no. . | Age, y . | Indication for gene therapy . | Mutation . | Infection history . | Medical treatment before and during gene therapy . |
|---|---|---|---|---|---|
| 1 | 28 | Staphylococcal liver abscess | 461delA; N154fsX160 (frameshift) | Recurrent infections including previous bacterial abscesses of the liver | Intravenous meropenem, vancomycin, and linezolid |
| 2 | 28 | Paecilomyces chest wall infection | 4 nucleotide deletion that spans splice site 1150_E9(+2)delAA/gt, deletion of Exon 9 in mRNA | Recurrent pneumonias requiring thoracotomies | Intravenous ambisome then intravenous voriconazole, switched to posaconazole and 5 Fluorocytosine, then caspofungin added |
| 3 | 19 | Aspergillus lung infection | Nonsense mutation: C217A; R73X | Prior Aspergillus lung infection, Burkholderia and Bartonella infections, and osteomyelitis | Intravenous ambisome, then treated with voriconazole and micafungin |
Three patients with confirmed X-CGD were enrolled in the study using genetically modified cells to treat an unresolving infection. Patients' infections, specific genetic mutation, and infection history as well as the medical therapy used concurrently are listed.