Early Diagnosis of Ataxia Telangiectasia Through Newborn Screening for SCID: a Case Report Highlighting the Dilemma of Pre-emptive HSCT

J Clin Immunol. 2023 Nov;43(8):1770-1773. doi: 10.1007/s10875-023-01571-y. Epub 2023 Aug 25.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ataxia Telangiectasia Mutated Proteins
  • Ataxia Telangiectasia* / diagnosis
  • Ataxia Telangiectasia* / genetics
  • Early Diagnosis
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Infant, Newborn
  • Neonatal Screening
  • Severe Combined Immunodeficiency* / diagnosis

Substances

  • Ataxia Telangiectasia Mutated Proteins