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Article

Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy.

European journal of pediatrics - 1 Jun 2014

Garg Nisha, Kasapcopur Ozgur, Foster Joseph, Barut Kenan, Tekin Ayşe, Kızılkılıç Osman, Tekin Mustafa

Abstract excerpt

UNLABELLED: Adenosine deaminase 2 (ADA2) deficiency due to CECR1 mutations is a recently defined disorder that involves systemic inflammation and vasculopathy often associated with polyarteritis nodosa. We report on a 5-year-old girl with a severe vasculopathy who carried two novel mutations in C...

Read the complete abstract on PubMed

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Share to Adenosine and Purinergic Signaling
Share to Adenosine Deaminase
Share to Cardiac Arrhythmias and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Diagnosis, Differential

Share to Intercellular Signaling Peptides and Proteins

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Source

Identifiers

PMID: 24737293
DOI: 10.1007/s00431-014-2320-8

Genes

ADA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-24737293-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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