title: Haploidentical hematopoietic stem cell transplantation for a case with X-linked chronic granulomatous disease.
abstract: CGD is a rare primary immunodeficiency with high mortality rates when treated conventionally, especially for the X-chromosome-linked form. HSCT is the only curative therapy for CGD; however, haploidentical transplantation in CGD is rare. Here, we report a case of X-linked CGD treated successfully by haploidentical HSCT. The patient showed a positive result with full donor chimerism, good quality of life, and the absence of recurrent infectious diseases at follow-up (68 months). Thus, haploidentical HSCT may serve as an acceptable treatment approach for patients who have CGD, but no HLA-matched related or unrelated donor.
authors.affiliation: The Fifth People's Hospital of Shanghai, Fudan University, Shanghai, China.|Shanghai Dao-Pei Hospital, Shanghai, China.
authors.forename: Ling
authors.initials: L
authors.lastname: Zhou
authors.affiliation: Shanghai Dao-Pei Hospital, Shanghai, China.
authors.forename: Lu-Jia
authors.initials: LJ
authors.lastname: Dong
authors.affiliation: Shanghai Dao-Pei Hospital, Shanghai, China.
authors.forename: Zhi-Yong
authors.initials: ZY
authors.lastname: Gao
authors.affiliation: Shanghai Dao-Pei Hospital, Shanghai, China.
authors.forename: Xin-Jian
authors.initials: XJ
authors.lastname: Yu
authors.affiliation: The Fifth People's Hospital of Shanghai, Fudan University, Shanghai, China.|Shanghai Dao-Pei Hospital, Shanghai, China.
authors.forename: Dao-Pei
authors.initials: DP
authors.lastname: Lu
mesh_terms: D000293:Adolescent; D002066:Busulfan / Q000008:administration & dosage; D041321:Chromosomes, Human, X; D003520:Cyclophosphamide / Q000008:administration & dosage; D006105:Granulomatous Disease, Chronic / Q000628:therapy*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008297:Male; D011788:Quality of Life; D019172:Transplantation Conditioning
chemical_list: D003520:Cyclophosphamide; D002066:Busulfan
keywords: X-linked chronic granulomatous disease; haploidentical; myeloablative conditioning