The long quest for neonatal screening for severe combined immunodeficiency

J Allergy Clin Immunol. 2012 Mar;129(3):597-604; quiz 605-6. doi: 10.1016/j.jaci.2011.12.964. Epub 2012 Jan 24.


Early recognition of severe combined immunodeficiency (SCID) is a pediatric emergency because a diagnosis before live vaccines or nonirradiated blood products are given and before development of infections permits lifesaving unfractionated HLA-identical or T cell-depleted haploidentical hematopoietic stem cell transplantation, enzyme replacement therapy, or gene therapy. The need for newborn screening for this condition has been recognized for the past 15 years. However, implementation of screening required development of an assay for T-cell lymphopenia that could be performed on dried bloodspots routinely collected from newborn infants for the past 48 years. This was accomplished 6 years ago, and there have already been 7 successful pilot studies. A recommendation to add SCID to the routine newborn-screening panel was approved by the Secretary's Advisory Committee on Heritable Disorders of Newborns and Children in 2010 and was soon after approved by the Secretary of Health and Human Services. It is important for allergists, immunologists, and other health care providers to take an active role in promoting newborn screening for SCID and other T-lymphocyte abnormalities in their states. Even more important will be their roles in establishing accurate diagnoses for infants with positive screen results and in ensuring that they are given the best possible treatment.

Publication types

  • Review

MeSH terms

  • Early Diagnosis
  • Enzyme Replacement Therapy*
  • Genetic Therapy
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Infant, Newborn
  • Lymphopenia / diagnosis
  • Neonatal Screening*
  • Pathology, Molecular / methods
  • Physician's Role
  • Severe Combined Immunodeficiency / diagnosis*
  • Severe Combined Immunodeficiency / physiopathology
  • Severe Combined Immunodeficiency / therapy
  • T-Lymphocytes / immunology*