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Article

Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation.

Pediatric rheumatology online journal - 22 Aug 2017

Skrabl-Baumgartner Andrea, Plecko Barbara, Schmidt Wolfgang M, König Nadja, Hershfield Michael, Gruber-Sedlmayr Ursula, Lee-Kirsch Min Ae

Abstract excerpt

BACKGROUND: Loss-of-function CECR1 mutations cause polyarteritis nodosa (PAN) with childhood onset, an autoinflammatory disorder without significant signs of autoimmunity. Herein we describe the unusual presentation of an autoimmune phenotype with constitutive type I interferon activation in siblings with adenosine deaminase 2 (ADA2) deficiency. CASE PRESENTATION: We describe two siblings with early-onset...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Intercellular Signaling Peptides and Proteins

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Source

Open in PubMed Open full text

Identifiers

PMID: 28830446
DOI: 10.1186/s12969-017-0193-x
PMCID: PMC5568374

Genes

ADA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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