Linking newborn severe combined immunodeficiency screening with targeted exome sequencing: A case report

J Allergy Clin Immunol Pract. 2017 Sep-Oct;5(5):1442-1444. doi: 10.1016/j.jaip.2017.03.004. Epub 2017 Apr 21.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cord Blood Stem Cell Transplantation
  • Exome*
  • Female
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Infant, Newborn
  • Interleukin Receptor Common gamma Subunit / genetics*
  • Interleukin Receptor Common gamma Subunit / immunology
  • Male
  • Neonatal Screening / methods*
  • Pedigree
  • Phenotype
  • Predictive Value of Tests
  • Pregnancy
  • Sequence Analysis, DNA / methods*
  • Severe Combined Immunodeficiency / diagnosis
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / immunology
  • Severe Combined Immunodeficiency / surgery
  • Treatment Outcome

Substances

  • Genetic Markers
  • IL2RG protein, human
  • Interleukin Receptor Common gamma Subunit