Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis

J Neurol. 2016 Apr;263(4):818-20. doi: 10.1007/s00415-016-8070-y. Epub 2016 Feb 25.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adenosine Deaminase / deficiency*
  • Adenosine Deaminase / genetics
  • Adult
  • Agammaglobulinemia / complications*
  • Agammaglobulinemia / genetics
  • Female
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics
  • Male
  • Paraplegia / genetics*
  • Pedigree
  • Severe Combined Immunodeficiency / complications*
  • Severe Combined Immunodeficiency / genetics
  • Systemic Vasculitis / genetics*

Substances

  • Intercellular Signaling Peptides and Proteins
  • ADA2 protein, human
  • Adenosine Deaminase

Supplementary concepts

  • Severe combined immunodeficiency due to adenosine deaminase deficiency