Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency

Neurology. 2015 May 19;84(20):2092-3. doi: 10.1212/WNL.0000000000001581. Epub 2015 Apr 17.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adenosine Deaminase / deficiency*
  • Adenosine Deaminase / genetics*
  • Age Factors
  • Child
  • Dermatitis / complications
  • Dermatitis / diagnosis*
  • Dermatitis / genetics*
  • Homozygote
  • Humans
  • Intercellular Signaling Peptides and Proteins / deficiency*
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Male
  • Mutation
  • Stroke, Lacunar / complications
  • Stroke, Lacunar / diagnosis*
  • Stroke, Lacunar / genetics*

Substances

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