Maternal Mosaicism for a Novel Interleukin-2 Receptor γ-Chain Mutation Causing X-Linked Severe CombinedImmunodeficiency in a Navajo Kindred

@article{Omarcaigh1997MaternalMF,
  title={Maternal Mosaicism for a Novel Interleukin-2 Receptor γ-Chain Mutation Causing X-Linked Severe CombinedImmunodeficiency in a Navajo Kindred},
  author={Aengus S O'marcaigh and Jennifer M Puck and Amy E. Pepper and Kenneth De Santes and Morton J Cowan},
  journal={Journal of Clinical Immunology},
  year={1997},
  volume={17},
  pages={29-33}
}
X-linked severe combined immunodeficiency disease (SCID) results from mutations of IL2RG, the gene encoding the interleukin-2 receptor γ chain, also known as the common γ chain (γc). A distinct form of autosomal recessive SCID occurs at an increased frequency among the Navajo Native American population, The disease gene responsible for autosomal Navajo SCID… CONTINUE READING