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| Status |
Public on Oct 27, 2021 |
| Title |
Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single cell RNA sequencing of monocytes |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
Background and methods: 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, and immunodeficiency as well as hematologic manifestations. The ADA2 protein is predominantly expressed in stimulated monocytes, dendritic cells, and macrophages. To elucidate molecular mechanisms in DADA2, CD14+-monocyte expression of 14 patients and 6 healthy donors were analyzed using single cell RNA sequencing (scRNA-seq).
Results: By comparing gene expression of each monocyte subtypes between patients and healthy donors, we identified upregulation of immune response pathways.
Conclusion: Our results suggest that responses to stimulie are upregulated and protein synthesis is reduced in order to cope with aberrant immune responses. Our findings would contribute to elucidate pathogenesis of this disease.
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| Overall design |
RNA profiles of single peripheral blood monocytes of 14 DADA2 patients and 6 healthy donors were generated by deep sequencing using quencing using Illumina HiSeq 3000
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| Contributor(s) |
Gao S, Watanabe N |
| Citation(s) |
33988272 |
| Submission date |
Dec 20, 2019 |
| Last update date |
Oct 27, 2021 |
| Contact name |
Shouguo Gao |
| E-mail(s) |
gaos2@nih.gov
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| Phone |
3014029014
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| Organization name |
National Institutes of Health
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| Department |
NHLBI
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| Lab |
Hematology Branch
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| Street address |
9000 Rockville Pike
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| City |
Bethesda |
| State/province |
MD |
| ZIP/Postal code |
20892 |
| Country |
USA |
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| Platforms (1) |
| GPL21290 |
Illumina HiSeq 3000 (Homo sapiens) |
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| Samples (20)
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| Relations |
| BioProject |
PRJNA597036 |
| SRA |
SRP238408 |
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