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Article

A novel frameshift variant in the ADA2 gene of a patient with a neurological phenotype: a case report.

Pediatric rheumatology online journal - 17 Dec 2022

Lucane Z, Davidsone Z, Micule I, Auzenbaha M, Kurjane N

Abstract excerpt

BACKGROUND: Adenosine deaminase 2 (ADA2) deficiency is an inherited autoinflammatory syndrome caused by a defect in the ADA2 gene. Most common manifestations include peripheral vasculopathy, early-onset stroke, immunodeficiency, and haematological manifestations. Patients with pathogenic variants that are more detrimental to ADA2's enzymatic function (e.g. frameshift) have been reported to be prone to developing...

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Source

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Identifiers

PMID: 36528591
DOI: 10.1186/s12969-022-00781-9
PMCID: PMC9759365

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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