Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa | Zendy

Tania M. González Santiago | Zendy; Andrey V. Zavialov | Zendy; Janna Saarela | Zendy; Mikko Seppänen | Zendy; Ann M. Reed | Zendy; Roshini S. Abraham | Zendy; Lawrence E. Gibson | Zendy

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Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa

Author(s) -

Tania M. González Santiago,

Andrey V. Zavialov,

Janna Saarela,

Mikko Seppänen,

Ann M. Reed,

Roshini S. Abraham,

Lawrence E. Gibson

Publication year - 2015

Publication title -

jama dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.128

H-Index - 166

eISSN - 2168-6084

pISSN - 2168-6068

DOI - 10.1001/jamadermatol.2015.1635

Subject(s) - medicine , sibling , polyarteritis nodosa , disease , immunodeficiency , compound heterozygosity , immunology , family history , pathogenesis , pathology , allele , gene , vasculitis , biology , genetics , psychology , developmental psychology , immune system

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.

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