title: Stem cell transplantation for the treatment of immunodeficiency in children: current status and hopes for the future.
abstract: Primary immunodeficiencies (PID) are rare inherited disorders affecting immune function and can be life-threatening if not treated. Haematopoietic stem cell transplantation (HSCT) offers a curative approach for many of these disorders and gene therapy is increasingly used as an alternative therapeutic strategy for patients lacking a suitable donor. Early diagnosis, improved supportive care and advances in gene and cell therapies have resulted in increased survival rates and improved quality of life. This review describes current strategies employed to improve outcomes in PID, focusing on new developments in HSCT, gene and cell therapy. We also address the challenges associated with newborn screening (NBS) programmes and novel mutations identified through improved diagnostic technology.
authors.affiliation: a Department of Paediatric Immunology , Great Ormond Street Hospital , London , UK.
authors.forename: Claire
authors.initials: C
authors.lastname: Booth
authors.affiliation: b Department of Bone Marrow Transplantation , Great Ormond Street Hospital , London , UK.
authors.forename: Juliana
authors.initials: J
authors.lastname: Silva
authors.affiliation: b Department of Bone Marrow Transplantation , Great Ormond Street Hospital , London , UK.
authors.forename: Paul
authors.initials: P
authors.lastname: Veys
mesh_terms: D000818:Animals; D002648:Child; D004252:DNA Mutational Analysis; D042241:Early Diagnosis; D015316:Genetic Therapy; D006086:Graft vs Host Disease / Q000276:immunology / Q000517:prevention & control*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000628:therapy*; D007231:Infant, Newborn; D015997:Neonatal Screening; D011788:Quality of Life
keywords: SCID; gene therapy; haematopoietic stem cell transplant; newborn screening; thymic transplant