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.

Authors

Peter Lamprecht¹, Jens Y Humrich², Isabel Diebold³, Gabriela Riemekasten²

Affiliations

¹ Department of Rheumatology and Clinical Immunology, University of Lübeck, Germany. [email protected].
² Department of Rheumatology and Clinical Immunology, University of Lübeck, Germany.
³ Medical Genetic Centre, München, Germany.

PMID: 29600946

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