title: Hematopoietic stem cell transplantation with reduced intensity conditioning from a family haploidentical donor in an infant with familial hemophagocytic lymphohistocytosis.
abstract: Allogeneic hematopoietic stem cell transplantation is the only curative method for patients with familial hemophagocytic lymphohistiocytosis (FHL). We present a case of a 3-month-old girl with Munc13-4 mutation (FHL3), who underwent bone marrow transplantation (BMT) from her human leukocyte antigen-haploidentical mother following reduced intensity conditioning (RIC) with fludarabine, melphalan, and busulfan. Engraftment after BMT was generally uneventful, with only mild acute graft versus host disease. Munc13-4 protein was restored following BMT, and she is well and free of disease 14 months after BMT. These results suggest that BMT with RIC from a family haploidentical donor may sufficiently restore immune regulation in infants, while lessening treatment-related mortality and long-term sequelae.
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, Yamadaoka 2-2, Suita, 565-0871, Japan. ohta@ped.med.osaka-u.ac.jp.
authors.forename: Hideaki
authors.initials: H
authors.lastname: Ohta
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, Yamadaoka 2-2, Suita, 565-0871, Japan.
authors.forename: Emiko
authors.initials: E
authors.lastname: Miyashita
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, Yamadaoka 2-2, Suita, 565-0871, Japan.
authors.forename: Ikuko
authors.initials: I
authors.lastname: Hirata
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, Yamadaoka 2-2, Suita, 565-0871, Japan.
authors.forename: Risa
authors.initials: R
authors.lastname: Matsumura
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, Yamadaoka 2-2, Suita, 565-0871, Japan.
authors.forename: Hisao
authors.initials: H
authors.lastname: Yoshida
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, Yamadaoka 2-2, Suita, 565-0871, Japan.
authors.forename: Yoshiko
authors.initials: Y
authors.lastname: Hashii
authors.affiliation: Department of Pediatrics, Suita Municipal Hospital, Suita, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Higashiura
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Yasumi
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Yuuki
authors.initials: Y
authors.lastname: Murata
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Toshio
authors.initials: T
authors.lastname: Heike
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan.
authors.forename: Xi
authors.initials: X
authors.lastname: Yang
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan.
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kanegane
authors.affiliation: Department of Human Genome Research, Kazusa DNA Research Institute, Kisarazu, Japan.
authors.forename: Osamu
authors.initials: O
authors.lastname: Ohara
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, Yamadaoka 2-2, Suita, 565-0871, Japan.
authors.forename: Keiichi
authors.initials: K
authors.lastname: Ozono
mesh_terms: D005260:Female; D006086:Graft vs Host Disease / Q000188:drug therapy / Q000209:etiology; D006238:Haploidy; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects; D006579:Heterozygote; D006801:Humans; D007223:Infant; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics / Q000628:therapy*; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D011239:Prednisolone / Q000627:therapeutic use; D014019:Tissue Donors; D018183:Transplantation Chimera; D019172:Transplantation Conditioning; D014184:Transplantation, Homologous
chemical_list: D008565:Membrane Proteins; C507969:UNC13D protein, human; D011239:Prednisolone