Diagnosis of deficiency of adenosine deaminase 2 with early onset polyarteritis nodosa in an adult patient with a novel compound heterozygous CECR1 mutation

Clin Exp Rheumatol. 2018 Mar-Apr;36 Suppl 111(2):177. Epub 2018 Mar 15.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adenosine Deaminase / deficiency
  • Adenosine Deaminase / genetics*
  • Adult
  • Age of Onset
  • Female
  • Heterozygote
  • Humans
  • Intercellular Signaling Peptides and Proteins / deficiency
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Mutation
  • Polyarteritis Nodosa / genetics*

Substances

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