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Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa.

Authors
  • Gonzalez Santiago, Tania M1
  • Zavialov, Andrey2
  • Saarela, Janna3
  • Seppanen, Mikko4
  • Reed, Ann M5
  • Abraham, Roshini S6
  • Gibson, Lawrence E1
  • 1 Department of Dermatology, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota.
  • 2 Turku Center for Biotechnology, University of Turku, Turku, Finland. , (Finland)
  • 3 Institute for Molecular Medicine Finland, University of Helsinki, Helsinki. , (Finland)
  • 4 Immunodeficiency Unit, Inflammation Center, Helsinki University, Helsinki University Hospital, Helsinki, Finland. , (Finland)
  • 5 Rheumatology Division, Department of Internal Medicine and Pediatrics, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota.
  • 6 Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota.
Type
Published Article
Journal
JAMA dermatology
Publication Date
Nov 01, 2015
Volume
151
Issue
11
Pages
1230–1234
Identifiers
DOI: 10.1001/jamadermatol.2015.1635
PMID: 26131734
Source
Medline
Language
English
License
Unknown

Abstract

Mutations in the CERC1 gene associated with deficiency in the ADA2 protein (DADA2) have been implicated in the pathogenesis of cutaneous polyarteritis nodosa (cPAN) and early-onset vasculopathy. DADA2 is not only limited to cPAN and vasculopathy but also includes immunodeficiency that affects several cellular compartments, including B cells; however, some patients appear to have a more indolent, skin-limited disease. In this report, we describe 2 white siblings (female and male) with a history of cPAN with DADA2 as a result of novel compound heterozygous mutations inherited in trans in the CECR1 gene (c.37_39del [p.K13del] and c.1159C>A [p.N328K]). The onset of disease was earlier in the female sibling than the male sibling although both were diagnosed as having cPAN in early childhood. The disease is associated with a more significant immunodeficiency and other systemic symptoms in the female than the male sibling. These findings suggest a genetic cause of cPAN in some patients. Therefore, DADA2 should be considered in patients with cPAN, specifically in those whose conditions are diagnosed at an early age, regardless of their ethnicity, presence or absence of systemic symptoms, or a family history of the disease.

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