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Article

[Multiple facets of ADA2 deficiency: Vasculitis, auto-inflammatory disease and immunodeficiency: A literature review of 135 cases from literature].

La Revue de medecine interne - 1 Apr 2018

Fayand A, Sarrabay G, Belot A, Hentgen V, Kone-Paut I, Grateau G, Melki I, Georgin-Lavialle S

Abstract excerpt

Deficiency of adenosine deaminase 2 (DADA2) is a recently described auto-inflammatory disorder. It is an autosomal recessive inherited disease, caused by mutations in the ADA2 gene (formerly known as CECR1) encoding ADA2 enzyme. Besides its role in the purine metabolism, it has been postulated that ADA2 may act as a growth factor for endothelial cells and in the differenciation of monocytes. Thus, deficiency of...

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Source

Identifiers

PMID: 29273180
DOI: 10.1016/j.revmed.2017.11.006

Genes

ADA2
TNF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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