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Article

Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single-cell RNA sequencing of monocytes.

Journal of leukocyte biology - 1 Sept 2021

Watanabe Naoki, Gao Shouguo, Wu Zhijie, Batchu Sai, Kajigaya Sachiko, Diamond Carrie, Alemu Lemlem, Raffo Diego Quinones, Hoffmann Patrycja, Stone Deborah, Ombrello Amanda K, Young Neal S

Abstract excerpt

Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive disease caused by loss-of-function variants in the ADA2 gene. DADA2 typically presents in childhood and is characterized by vasculopathy, stroke, inflammation, immunodeficiency, as well as hematologic manifestations. ADA2 protein is predominantly present in stimulated monocytes, dendritic cells, and macrophages. To elucidate molecular...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33988272
DOI: 10.1002/JLB.3HI0220-119RR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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