Combined Immunodeficiency, Hemolytic Anemia, and Growth Retardation Secondary to a Homozygous Mutation in the NHEJ1 Gene

J Pediatr Hematol Oncol. 2020 May;42(4):333-335. doi: 10.1097/MPH.0000000000001545.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Anemia, Hemolytic / genetics*
  • Child
  • DNA Repair Enzymes / genetics*
  • DNA-Binding Proteins / genetics*
  • Growth Disorders / genetics*
  • Homozygote*
  • Humans
  • Male
  • Mutation*
  • Severe Combined Immunodeficiency / genetics*

Substances

  • DNA-Binding Proteins
  • NHEJ1 protein, human
  • DNA Repair Enzymes