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Article

Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome.

Journal of clinical immunology - 1 May 2015

Nikolajeva Olga, Worth Austen, Hague Rosie, Martinez-Alier Nuria, Smart Joanne, Adams Stuart, Davies E Graham, Gaspar H Bobby

Abstract excerpt

PURPOSE: Adenosine deaminase (ADA) deficiency is a systemic disorder of purine metabolism. Deficiency of the purine salvage enzyme ADA leads to the build-up of the toxic metabolites, deoxyadenosine triphosphate and deoxyadenosine. ADA is ubiquitously expressed in all tissues of the body but most profoundly affects lymphocyte development and function leading to severe combined immunodeficiency (SCID). Unlike most...

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Source

Identifiers

PMID: 25875700
DOI: 10.1007/s10875-015-0158-0

Genes

ADA

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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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