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Series GSE142444 Query DataSets for GSE142444
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
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.
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
Contributor(s) Gao S, Watanabe N
Citation(s) 33988272
Submission date Dec 20, 2019
Last update date Oct 27, 2021
Contact name Shouguo Gao
Phone 3014029014
Organization name National Institutes of Health
Department NHLBI
Lab Hematology Branch
Street address 9000 Rockville Pike
City Bethesda
State/province MD
ZIP/Postal code 20892
Country USA
Platforms (1)
GPL21290 Illumina HiSeq 3000 (Homo sapiens)
Samples (20)
GSM4227413 HD1: Monocytes_1
GSM4227414 HD2: Monocytes_2
GSM4227415 HD3: Monocytes_3
BioProject PRJNA597036
SRA SRP238408

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Supplementary file Size Download File type/resource
GSE142444_DATAmonoCount_part1.csv.gz 61.7 Mb (ftp)(http) CSV
GSE142444_DATAmonoCount_part2.csv.gz 50.8 Mb (ftp)(http) CSV
GSE142444_DATAmonoCount_part3.csv.gz 60.3 Mb (ftp)(http) CSV
GSE142444_cellmetaData.csv.gz 2.9 Mb (ftp)(http) CSV
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Processed data are available on Series record

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