Long-term survival in severe combined immune deficiency: the role of persistent maternal engraftment

J Pediatr. 2005 Jan;146(1):137-40. doi: 10.1016/j.jpeds.2004.09.010.

Abstract

Two siblings with severe combined immune deficiency, one with maternal engraftment and detectable immunologic functions who was alive at the age of 8 years are presented. Both patients had the same JAK3 gene mutation, suggesting that maternal engraftment may result in immune competence leading to long-term survival in patients with severe combined immune deficiency.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Humans
  • Immunity, Maternally-Acquired*
  • Janus Kinase 3
  • Male
  • Pedigree
  • Protein-Tyrosine Kinases / genetics
  • Severe Combined Immunodeficiency / genetics
  • Severe Combined Immunodeficiency / immunology*
  • Severe Combined Immunodeficiency / mortality
  • Survival Rate

Substances

  • Protein-Tyrosine Kinases
  • JAK3 protein, human
  • Janus Kinase 3