Optimizing outcomes of hematopoietic stem cell transplantation for severe combined immunodeficiency

• Published in: Clinical immunology (Orlando, Fla.) Vol. 131; no. 2; pp. 179 - 188
• Main Authors: Cuvelier, Geoff D.E, Schultz, Kirk R, Davis, Jeff, Hirschfeld, Aaron F, Junker, Anne K, Tan, Rusung, Turvey, Stuart E
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier Inc 01.05.2009; Elsevier
• Subjects: Allergy and Immunology; Biological and medical sciences; Fatal Outcome; Female; Fundamental and applied biological sciences. Psychology; Fundamental immunology; Hematopoietic Stem Cell Transplantation; Humans; Infant, Newborn; Interleukin Receptor Common gamma Subunit - genetics; Male; Mutation; Pregnancy; Primary immunodeficiency; Severe combined immunodeficiency; Treatment Outcome; X-Linked Combined Immunodeficiency Diseases - therapy; human leukocyte antigen; GVHD; severe combined immunodeficiency; SCID; HLA-matched related donor; HLA-mismatched related donor; Primary immunodeficiency; TRECs; TCD; UCB; MMRD; T cell depleted; hematopoietic stem cell transplantation; umbilical cord blood; HLA; HSCT; MUD; HLA-matched unrelated donor; graft-versus-host disease; MRD; T cell receptor excision circles; Severe combined immunodeficiency; Hematopoietic stem cell transplantation; Immunopathology; Prognosis; Stem cell; Hematopoietic cell; Stem cell transplantation; Optimization; Immunology; Primary; Evolution; Combined immune deficiency
• ISSN: 1521-6616; 1521-7035
• DOI: 10.1016/j.clim.2009.01.003

Abstract This FOCIS Centers of Excellence Short Analytical Review is based on the clinical vignette of two boys from the same family with very different outcomes following hematopoietic stem cell transplantation (HSCT) for X-linked severe combined immunodeficiency (SCID). We review the kinetics of immune reconstitution following HSCT in SCID and emphasize the latest information regarding optimizing transplant outcomes for this disorder. The cases illustrate the difficulties and controversies surrounding the optimal strategies for planning SCID transplants. Specifically, we will focus on 3 areas of current debate and investigation: (i) factors involved in donor selection; (ii) the role of pretransplant conditioning; and (iii) benefits of early HSCT for SCID.