1. Outcomes of patients with severe combined immunodeficiency treated with hematopoietic stem cell transplantation with and without preconditioning
- Author
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Samuel B. Foster, Kathryn S. Leung, Jerome Ritz, Robert A. Krance, Betty S. Brown, William T. Shearer, Carla M. Davis, Filiz O. Seeborg, Niraj C. Patel, Howard M. Rosenblatt, Mary E. Paul, Lenora M. Noroski, Javier Chinen, Stuart L. Abramson, and I. Celine Hanson
- Subjects
Male ,medicine.medical_specialty ,Transplantation Conditioning ,medicine.medical_treatment ,Immunology ,Graft vs Host Disease ,Hematopoietic stem cell transplantation ,Kaplan-Meier Estimate ,Gene mutation ,Article ,Internal medicine ,medicine ,Immunology and Allergy ,Humans ,Child ,Severe combined immunodeficiency ,business.industry ,Hematopoietic Stem Cell Transplantation ,Infant, Newborn ,Infant ,medicine.disease ,Surgery ,Adenosine deaminase deficiency ,Immunoglobulin A ,Transplantation ,Graft-versus-host disease ,Treatment Outcome ,Child, Preschool ,Immunoglobulin G ,Primary immunodeficiency ,Quality of Life ,Female ,Severe Combined Immunodeficiency ,business - Abstract
Background The effect of pretransplantation conditioning on the long-term outcomes of patients receiving hematopoietic stem cell transplantation for severe combined immunodeficiency (SCID) has not been completely determined. Objective We sought to assess the outcomes of 23 mostly conditioned patients with SCID and compare their outcomes with those of 25 previously reported nonconditioned patients with SCID who underwent transplantation. Methods In the present study we reviewed the medical records of these 23 consecutive, mostly conditioned patients with SCID who underwent transplantation between 1998 and 2007. Results Eighteen patients (median age at transplantation, 10 months; range, 0.8-108 months) received haploidentical mismatched related donor, matched unrelated donor, or mismatched unrelated donor transplants, 17 of whom received pretransplantation conditioning (with 1 not conditioned); 13 (72%) patients engrafted with donor cells and survive at a median of 3.8 years (range, 1.8-9.8 year); 5 (38%) of 13 patients require intravenous immunoglobulin; and 6 of 6 age-eligible children attend school. Of 5 recipients (median age at transplantation, 7 months; range, 2-23 months) of matched related donor transplants, all 5 engrafted and survive at a median of 7.5 years (range, 1.5-9.5 year), 1 recipient requires intravenous immunoglobulin, and 3 of 3 age-eligible children attend school. Gene mutations were known in 16 cases: mutation in the common γ chain of the IL-2 receptor (IL2RG) in 7 patients, mutation in the α chain of the IL-7 receptor (IL7RA) in 4 patients, mutation in the recombinase-activating gene (RAG1) in 2 patients, adenosine deaminase deficiency (ADA) in 2 patients, and adenylate kinase 2 (AK2) in 1 patient. Early outcomes and quality of life of the previous nonconditioned versus the present conditioned cohorts were not statistically different, but longer-term follow-up is necessary for confirmation. Conclusions Hematopoietic stem cell transplantation in patients with SCID results in engraftment, long-term survival, and a good quality of life for the majority of patients with or without pretransplantation conditioning.
- Published
- 2009