Stem cell transplantation for the treatment of immunodeficiency in children: current status and hopes for the future

Expert Rev Clin Immunol. 2016 Jul;12(7):713-23. doi: 10.1586/1744666X.2016.1150177. Epub 2016 Mar 4.


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.

Keywords: SCID; gene therapy; haematopoietic stem cell transplant; newborn screening; thymic transplant.

Publication types

  • Review

MeSH terms

  • Animals
  • Child
  • DNA Mutational Analysis
  • Early Diagnosis
  • Genetic Therapy*
  • Graft vs Host Disease / immunology
  • Graft vs Host Disease / prevention & control*
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis
  • Immunologic Deficiency Syndromes / therapy*
  • Infant, Newborn
  • Neonatal Screening
  • Quality of Life