Blood Journal
Leading the way in experimental and clinical research in hematology

Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening

  1. Lucinda Brown1,
  2. Jinhua Xu-Bayford1,
  3. Zoe Allwood1,
  4. Mary Slatter2,
  5. Andrew Cant2,
  6. E. Graham Davies1,
  7. Paul Veys3,
  8. Andrew R Gennery2, and
  9. H Bobby Gaspar4,*
  1. 1 Department of Clinical Immunology, Great Ormond Street Hospital NHS Trust, London, United Kingdom;
  2. 2 Department of Immunology and Bone Marrow Transplant, Newcastle General Hospital, Newcastle, United Kingdom;
  3. 3 Department of Blood and Marrow Transplantation, Great Ormond Street Hospital NHS Trust, London, United Kingdom;
  4. 4 Centre for Immunodeficiency, Molecular Immunology Unit, UCL Institute of Child Health, London, United Kingdom
  1. * Corresponding author; email: h.gaspar{at}


Severe combined immunodeficiency (SCID) carries a poor prognosis without definitive treatment by haematopoietic stem cell transplant (HSCT). The outcome for transplant varies and is dependent on donor status and the condition of the child at the time of transplant. Diagnosis at birth may allow for better protection of SCID babies from infection and improve transplant outcome. In this comparative study conducted at the two designated SCID transplant centres in the UK, we show that SCID babies diagnosed at birth because of a positive family history have a significantly improved outcome in comparison to the first presenting family member. The overall improved survival of >90% is related to a reduced rate of infection and significantly improved transplant outcome irrespective of donor choice, conditioning regime used and underlying genetic diagnosis. Neonatal screening for SCID would significantly improve the outcome of this otherwise potentially devastating condition.

  • Submitted August 5, 2010.
  • Accepted December 27, 2010.