ATAXIA-telangiectasia with compound heterozygous ATM mutations discovered on abnormal newborn screen

Ashley Sang Eun Lee, Roshini S. Abraham, Amrita Basu, Howard Lederman, Charlotte Cunningham-Rundles

Research output: Contribution to journalLetterpeer-review

Original languageEnglish
Article number110294
JournalClinical Immunology
Volume265
DOIs
StatePublished - Aug 2024

Keywords

  • ataxia telangiectasia
  • DNA double strand breaks
  • Gamma-H2AX
  • Lymphocytes
  • Lymphopenia
  • Phosphorylated ATM
  • Severe combined immunodeficiency
  • TREC

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