BACKGROUND: Allogeneic hematopoietic stem cell transplantation for chronic granulomatous disease (CGD) is associated with a significant risk of transplant-related mortality. Adult age, overt infection, and residual inflammatory disease at transplant are major risk factors. METHODS: Here we report the favorable outcome after bone marrow transplantation in three high-risk adult CGD patients (ages 18, 35, and 39) with severe disease-related complications (overt pneumonia, liver abscess, steroid-dependent granulomatous colitis, diabetes, restrictive lung disease, renal insufficiency, epilepsia). Bone marrow donors were human leukocyte antigen-matched related or unrelated. The conditioning regimen consisted of 2 x 4 mg/kg oral busulphan (d -3, -2), fludarabine 6 x 30 mg/qm (d -7 to -2), rabbit anti-T-cell-globulin (Fresenius) 4 x 10 mg/kg (d -4 to -1). Graft versus host disease prophylaxis consisted of cyclosporine A and mycophenolate-mofetil. RESULTS: Mean neutrophil and platelet engraftment was observed at day +18.5 and +22.5, respectively. All infectious and inflammatory lesions resolved and restrictive lung disease improved. No signs of grade II-IV acute or chronic graft versus host disease were observed. With a follow-up of 12 to 27 months, all patients are alive and well with full donor chimerism, normalized superoxide production, and documented T- and B-cell function. CONCLUSION: This modified reduced intensity conditioning protocol is a promising treatment modality for high-risk adult CGD patients.
BACKGROUND: Allogeneic hematopoietic stem cell transplantation for chronic granulomatous disease (CGD) is associated with a significant risk of transplant-related mortality. Adult age, overt infection, and residual inflammatory disease at transplant are major risk factors. METHODS: Here we report the favorable outcome after bone marrow transplantation in three high-risk adult CGDpatients (ages 18, 35, and 39) with severe disease-related complications (overt pneumonia, liver abscess, steroid-dependent granulomatous colitis, diabetes, restrictive lung disease, renal insufficiency, epilepsia). Bone marrow donors were human leukocyte antigen-matched related or unrelated. The conditioning regimen consisted of 2 x 4 mg/kg oral busulphan (d -3, -2), fludarabine 6 x 30 mg/qm (d -7 to -2), rabbit anti-T-cell-globulin (Fresenius) 4 x 10 mg/kg (d -4 to -1). Graft versus host disease prophylaxis consisted of cyclosporine A and mycophenolate-mofetil. RESULTS: Mean neutrophil and platelet engraftment was observed at day +18.5 and +22.5, respectively. All infectious and inflammatory lesions resolved and restrictive lung disease improved. No signs of grade II-IV acute or chronic graft versus host disease were observed. With a follow-up of 12 to 27 months, all patients are alive and well with full donor chimerism, normalized superoxide production, and documented T- and B-cell function. CONCLUSION: This modified reduced intensity conditioning protocol is a promising treatment modality for high-risk adult CGDpatients.
Authors: Elizabeth M Kang; Betty E Marciano; SukSee DeRavin; Kol A Zarember; Steven M Holland; Harry L Malech Journal: J Allergy Clin Immunol Date: 2011-04-17 Impact factor: 10.793
Authors: Matthias Felber; Colin G Steward; Karim Kentouche; Anders Fasth; Robert F Wynn; Ulrike Zeilhofer; Veronika Haunerdinger; Benjamin Volkmer; Seraina Prader; Bernd Gruhn; Stephan Ehl; Kai Lehmberg; Daniel Müller; Andrew R Gennery; Michael H Albert; Fabian Hauck; Kanchan Rao; Paul Veys; Moustapha Hassan; Arjan C Lankester; Jana Pachlopnik Schmid; Mathias M Hauri-Hohl; Tayfun Güngör Journal: Blood Adv Date: 2020-05-12