Outcomes of patients with severe combined immunodeficiency treated with hematopoietic stem cell transplantation with and without preconditioning

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

卷:124

Article

Patel, Niraj C.¹  Chinen, Javier¹  Rosenblatt, Howard M.²  Hanson, I. Celine¹  Krance, Robert A.³  Paul, Mary E.¹  Abramson, Stuart L.¹  Noroski, Lenora M.¹  Davis, Carla M.¹  Seeborg, Filiz O.¹  Foster, Samuel B.¹  Leung, Kathryn S.³  Brown, Betty S.¹  Ritz, Jerome^4,5,6  Shearer, William T.¹ 

[1] Texas Childrens Hosp, Dept Pediat, Sect Allergy & Immunol, Baylor Coll Med, Houston, TX 77039 USA

[2] Dell Childrens Med Ctr Cent Texas, Austin, TX USA

[3] Texas Childrens Hosp, Sect Hematol & Oncol, Baylor Coll Med, Houston, TX 77039 USA

[4] Harvard Univ, Sch Med, Div Hematol Malignancies, Boston, MA USA

[5] Harvard Univ, Sch Med, Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA

[6] Harvard Univ, Sch Med, Harvard Stem Cell Inst, Boston, MA USA

关键词: Hematopoietic stem cell transplantation;    graft-versus-host disease;    severe combined immunodeficiency;    immune reconstitution;    primary immunodeficiency;    conditioning;   

DOI  :  10.1016/j.jaci.2009.08.041

来源: Elsevier

【 摘 要 】

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 I 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), I recipient requires intravenous immunoglobulin, and 3 of 3 age-eligible children attend school. Gene mutations were known in 16 cases: mutation in the common gamma chain of the IL-2 receptor (IL2RG) in 7 patients, mutation in the alpha 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 I 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 SCED results in engraftment, long-term survival, and a good quality of life for the majority of patients with or without pretransplantation conditioning. (J Allergy Clin Immunol 2009;124:1062-9.)

【 授权许可】

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