Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome

Indian J Pediatr. 2016 Mar;83(3):270-1. doi: 10.1007/s12098-015-1852-x. Epub 2015 Jul 30.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Ataxia Telangiectasia / diagnosis*
  • Ataxia Telangiectasia / genetics
  • Ataxia Telangiectasia Mutated Proteins / genetics*
  • Child, Preschool
  • Cytidine Deaminase / genetics*
  • Diagnosis, Differential
  • Diagnostic Errors
  • Female
  • Humans
  • Hyper-IgM Immunodeficiency Syndrome / diagnosis*
  • Hyper-IgM Immunodeficiency Syndrome / genetics

Substances

  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins
  • AICDA (activation-induced cytidine deaminase)
  • Cytidine Deaminase