PMC10156979_01
Medical history and thoracic CT-scan of the patient.
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Thoracoabdominal computerized tomography demonstrated multiple granulomas in the lung ( Figure 1 ). His medical history revealed that he had many infection episodes since he was 1-month old: recurrent and persistent pneumonia, gastrointestinal infection with bloody diarrhea, and recurrent oral thrush ( Figure 1 ).
Dihydrorhodamine-1,2,3 assay of the patient and his family.
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Heidelberg, Germany), showed that the neutrophil respiratory burst was more than 99% depressed compared to control. The diagnosis of chronic granulomatous disease ( Figure 2 ) had been confirmed for the patient and his family. His mother and sister had been diagnosed as X-linked CGD carriers, with oxidase-positive cells being 80.3% and 28.0%, respectively ( Figure 2 ).
PMC10156979_02
Conditioning regimen and Graft versus Host disease (GvHD) prophylaxis of the patient.
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According to the European Society for Blood and Marrow Transplantation/European Society for Immunodeficiencies (EBMT/ESID) Inborn Errors Working Party (IEWP), myeloablative conditioning included fludarabine 30 mg/m2 i.v. once a day from day -8 to day -3, busulfan i.v. 5.1 mg/kg daily from day -5 for 4 days, divided into four doses, and ATG-Fresenius (Grafalon, Neovil Biotech, Waltham, MA, USA) i.v. 10 mg/kg for 4 days from day -4 ( Figure 3 ). Mycophenolat mofetil 1,200 mg/m2 p.o. daily was also given ( Figure 3 ).
Engraftment of the neutrophil posttransplant.
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Neutrophil engraftment (defined as ANC >0.5 x 109/L) appeared on day 13 posttransplant ( Figure 4 ). The DHR 123 test result, as assessed on flow cytometry, was 38% at 45 days posttransplant ( Figure 4 ).