Treosulfan-based conditioning regimen in a second matched unrelated peripheral blood stem cell transplantation for a pediatric patient with CGD and invasive aspergillosis, who experienced initial graft failure after RIC.
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by a defect of phagocyte NADPH-oxidase and characterized by severe, recurrent bacterial and fungal infections. Invasive aspergillosis (IA) is the leading cause of mortality in patients with CGD. We report the case of a 3-year-old boy with CGD, who developed IA despite antifungal prophylaxis. His treatment consisted of a 10-month-long multi-drug antifungal therapy, together with surgery, but these did not cause any substantial clinical improvement. BMT in high-risk patients with CGD remains a challenge due to both, higher risk of graft rejection and inflammatory flare in the course of immune recovery. Our patient rejected the first matched unrelated donor (MUD) allograft after RIC regimen recommended by the EBMT Inborn Errors Working Party for high-risk patients. After treosulfan-based conditioning and second MUD peripheral blood stem cell transplantation both, full reconstitution of the granulocytic series and complete recovery from IA, were achieved.
Klaudel-Dreszler
Maja Agnieszka
MA
Department of Immunology, Children's Memorial Health Institute, Av. Dzieci Polskich 20, 04-730, Warsaw, Poland. immunologia.oddzial@czd.pl.
Kalwak
Krzysztof
K
Department of Pediatric Hematology, Oncology and Bone Marrow Transplantation, Wroclaw Medical University, 44 Bujwida St., 50-345, Wroclaw, Poland. kk@pedhemat.am.wroc.pl.
Kurenko-Deptuch
Magdalena
M
Department of Immunology, Children's Memorial Health Institute, Av. Dzieci Polskich 20, 04-730, Warsaw, Poland.
Wolska-Kusnierz
Beata
B
Department of Immunology, Children's Memorial Health Institute, Av. Dzieci Polskich 20, 04-730, Warsaw, Poland.
Heropolitanska-Pliszka
Edyta
E
Department of Immunology, Children's Memorial Health Institute, Av. Dzieci Polskich 20, 04-730, Warsaw, Poland.
Pietrucha
Barbara
B
Department of Immunology, Children's Memorial Health Institute, Av. Dzieci Polskich 20, 04-730, Warsaw, Poland.
Mikoluc
Bożena
B
Department of Pediatrics and Developmental Disorders of Children and Adolescents, Medical University, Bialystok, Poland.
Gorczyńska
Ewa
E
Department of Pediatric Hematology, Oncology and Bone Marrow Transplantation, Wroclaw Medical University, 44 Bujwida St., 50-345, Wroclaw, Poland.
Ussowicz
Marek
M
Department of Pediatric Hematology, Oncology and Bone Marrow Transplantation, Wroclaw Medical University, 44 Bujwida St., 50-345, Wroclaw, Poland.
Chybicka
Alicja
A
Department of Pediatric Hematology, Oncology and Bone Marrow Transplantation, Wroclaw Medical University, 44 Bujwida St., 50-345, Wroclaw, Poland.
Bernatowska
Ewa
E
Department of Immunology, Children's Memorial Health Institute, Av. Dzieci Polskich 20, 04-730, Warsaw, Poland.
D018906:Antineoplastic Agents, Alkylating / Q000627:therapeutic use; D001228:Aspergillosis / Q000628:therapy*; D002066:Busulfan / Q000031:analogs & derivatives* / Q000627:therapeutic use; D002675:Child, Preschool; D006085:Graft Survival; D006105:Granulomatous Disease, Chronic / Q000150:complications / Q000628:therapy*; D006801:Humans; D008297:Male; D036102:Peripheral Blood Stem Cell Transplantation / Q000379:methods*; D012086:Reoperation / Q000379:methods*; D019172:Transplantation Conditioning / Q000379:methods*
D018906:Antineoplastic Agents, Alkylating; C018404:treosulfan; D002066:Busulfan