title: Saving the red baby: successful allogeneic cord blood transplantation in Omenn syndrome.
abstract: Haematopoietic stem cell transplantation is the treatment of choice for severe primary immunodeficiencies, but only has moderate prognosis in Omenn syndrome as it is complicated by highly activated Omenn T-cells resulting in delayed T-cell engraftment and a high rate of graft failure. A 6 1/2 months old patient with a previously unknown compound heterozygous defect within the RAG1 gene (R474C; R975W) underwent 8/10 HLA-matched cord blood transplantation after myeloablative conditioning. Immune reconstitution was impressive with T-, B- and NK-cells reaching the median of age-dependent reference values within twelve, four and two months respectively. With a continuous decrease of activated Omenn T-cells there was a steady increase of naive, probably thymus-derived T-cells. Polyclonal B-cell activation and hypergammaglobulinaemia disappeared with B-cell engraftment. This case emphasizes that, despite their naive status and HLA-barriers, cord blood T-cells were apparently able to achieve T-effector function resulting in the elimination of all activated Omenn T-cells.
authors.affiliation: Immunodeficiencies centres Krefeld and Düsseldorf, Department of Paediatric Oncology, Haematology and Clinical Immunology, University Children's Hospital, Heinrich-Heine-University, Düsseldorf, Germany.
authors.forename: Stefan
authors.initials: S
authors.lastname: Schönberger
authors.forename: Hagen
authors.initials: H
authors.lastname: Ott
authors.forename: Sonja
authors.initials: S
authors.lastname: Gudowius
authors.forename: Stefan
authors.initials: S
authors.lastname: Wüller
authors.forename: Jens Malte
authors.initials: JM
authors.lastname: Baron
authors.forename: Hans-Friedrich
authors.initials: HF
authors.lastname: Merk
authors.forename: Lisa
authors.initials: L
authors.lastname: Lassay
authors.forename: Mosaad
authors.initials: M
authors.lastname: Megahed
authors.forename: Oliver
authors.initials: O
authors.lastname: Feyen
authors.forename: Hans-Jürgen
authors.initials: HJ
authors.lastname: Laws
authors.forename: Dagmar
authors.initials: D
authors.lastname: Dilloo
authors.forename: Arndt
authors.initials: A
authors.lastname: Borkhardt
authors.forename: Tim
authors.initials: T
authors.lastname: Niehues
mesh_terms: D036101:Cord Blood Stem Cell Transplantation; D003873:Dermatitis, Exfoliative / Q000276:immunology / Q000628:therapy*; D005260:Female; D005434:Flow Cytometry; D006801:Humans; D007223:Infant; D007958:Leukocyte Count; D016511:Severe Combined Immunodeficiency / Q000276:immunology / Q000628:therapy*; D019172:Transplantation Conditioning; D014184:Transplantation, Homologous