Saving the red baby: successful allogeneic cord blood transplantation in Omenn syndrome.
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.
Schönberger
Stefan
S
Immunodeficiencies centres Krefeld and Düsseldorf, Department of Paediatric Oncology, Haematology and Clinical Immunology, University Children's Hospital, Heinrich-Heine-University, Düsseldorf, Germany.
Ott
Hagen
H
Gudowius
Sonja
S
Wüller
Stefan
S
Baron
Jens Malte
JM
Merk
Hans-Friedrich
HF
Lassay
Lisa
L
Megahed
Mosaad
M
Feyen
Oliver
O
Laws
Hans-Jürgen
HJ
Dilloo
Dagmar
D
Borkhardt
Arndt
A
Niehues
Tim
T
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