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Article

A case report on deficiency of adenosine deaminase 2 with relapse-remission course and analysis of genotype-phenotype correlation.

American journal of medical genetics. Part A - 1 Jun 2024

Cai Qianyun, Feng Fan, Tian Yanmei, Luo Rong, Mu Dezhi, Yang Fan, Yang Zuozhen, Zhou Zhongjie

Abstract excerpt

Deficiency of adenosine deaminase 2 (DADA2) is a monogenic disease caused by biallelic mutations in adenosine deaminase 2 (ADA2). The varying phenotypes of the disease often lead to delayed diagnosis or misdiagnosis. We report an 11-year-old boy with DADA2 and provide a preliminary analysis of genotype-phenotype correlation. The age of onset of the disease was 8 years old. The disease successively involved the...

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PMID: 38353426
DOI: 10.1002/ajmg.a.63568

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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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