title: Successful non-myeloablative allogenic bone marrow transplantation in a child with severe congenital neutropenia complicated by chronic pulmonary infection.
abstract: We herein describe a 2-year-old boy with severe congenital neutropenia (SCN) who was successfully treated with reduced-intensity bone marrow transplantation (HSCT). He had suffered recurrent episodes of bacterial pneumonia from 12 months of age, and was found to have severe neutropenia with white blood cell counts below 100/μl. The patient harbored a heterozygous missense mutation in ELANE exon 4 (p.Gln134Pro, NM_001972.2: c.401A>C). This was a novel mutation. Due to intractable pneumonia and severe persistent neutropenia, reduced-intensity HSCT was performed from an HLA-matched sibling donor. The preparative regimen consisted of melphalan, fludarabine, and 4 Gy of total body irradiation. Hematopoietic engraftment was rapidly obtained, i.e., by day +14, and complete donor chimerism was subsequently achieved. The lung complications observed pre-transplantation markedly improved after neutrophil recovery, i.e., by day +60. We concluded that HSCT is a useful treatment for SCN patients, especially for those at high risk of leukemic transformation. Fludarabine-based reduced-intensity HSCT may represent a safe and effective therapeutic option for patients with SCN who need HSCT even if they have intractable infectious complications.
authors.affiliation: Department of Hematology and Oncology, Kobe Children's Hospital.
authors.forename: Nanako
authors.initials: N
authors.lastname: Nino
authors.forename: Aiko
authors.initials: A
authors.lastname: Kozaki
authors.forename: Daiichiro
authors.initials: D
authors.lastname: Hasegawa
authors.forename: Go
authors.initials: G
authors.lastname: Ueda
authors.forename: Hironobu
authors.initials: H
authors.lastname: Takahashi
authors.forename: Kenji
authors.initials: K
authors.lastname: Miyata
authors.forename: Satoshi
authors.initials: S
authors.lastname: Ochi
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Yamashita
authors.forename: Satoru
authors.initials: S
authors.lastname: Takafuji
authors.forename: Suguru
authors.initials: S
authors.lastname: Uemura
authors.forename: Takehito
authors.initials: T
authors.lastname: Yokoi
authors.forename: Atsuro
authors.initials: A
authors.lastname: Saito
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Ishida
authors.forename: Keiichiro
authors.initials: K
authors.lastname: Kawasaki
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Nakamura
authors.forename: Masao
authors.initials: M
authors.lastname: Kobayashi
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Kosaka
mesh_terms: D016026:Bone Marrow Transplantation; D002675:Child, Preschool; D002908:Chronic Disease; D000080984:Congenital Bone Marrow Failure Syndromes; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009503:Neutropenia / Q000150:complications / Q000151:congenital* / Q000235:genetics / Q000628:therapy; D054060:Pulmonary Infarction / Q000150:complications*; D014184:Transplantation, Homologous