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Article

Delayed-onset adenosine deaminase deficiency with a novel synonymous mutation and a case series from China.

World journal of pediatrics : WJP - 1 Jul 2023

Zhang Yue, Liu Wei, Shu Zhou, Li Yan, Sun Fei, Li Zhi-Gang, Han Tong-Xin, Mao Hua-Wei, Wang Tian-You

Abstract excerpt

BACKGROUND: Adenosine deaminase (ADA) is a key enzyme in the purine salvage pathway. Genetic defects of the ADA gene can cause a subtype of severe combined immunodeficiency. To date, few Chinese cases have been reported. METHODS: We retrospectively reviewed the medical records of patients diagnosed with ADA deficiency in Beijing Children's Hospital and summarized the previously published ADA deficiency cases from...

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Source

Identifiers

PMID: 37154862
DOI: 10.1007/s12519-023-00729-3

Genes

ADA

Variants

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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