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Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases.

Arthritis & rheumatology (Hoboken, N.J.) - 1 Sept 2016

Nanthapisal Sira, Murphy Claire, Omoyinmi Ebun, Hong Ying, Standing Ariane, Berg Stefan, Ekelund Maria, Jolles Stephen, Harper Lorraine, Youngstein Taryn, Gilmour Kimberly, Klein Nigel J, Eleftheriou Despina, Brogan Paul A

Abstract excerpt

OBJECTIVE: To describe the clinical features, genotype, and treatment in a series of subjects with confirmed adenosine deaminase 2 (ADA2) deficiency. METHODS: All symptomatic subjects were referred for genetic testing for suspected ADA2 deficiency; relatives of index cases were also screened. Demographic, clinical, and laboratory characteristics and treatments were recorded. Genetic analyses included whole-exome...

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Identifiers

PMID: 27059682
DOI: 10.1002/art.39699

Genes

ADA2

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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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