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Article

Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa.

JAMA dermatology - 1 Nov 2015

Gonzalez Santiago Tania M, Zavialov Andrey, Saarela Janna, Seppanen Mikko, Reed Ann M, Abraham Roshini S, Gibson Lawrence E

Abstract excerpt

IMPORTANCE: 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,...

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Source

Identifiers

PMID: 26131734
DOI: 10.1001/jamadermatol.2015.1635

Genes

ADA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa.PMID 26131734Read ↗

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Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment.Semantic proximity Read ↗

Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders.Semantic proximity Read ↗

Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia.Semantic proximity Read ↗

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