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| Status |
Public on Jan 01, 2010 |
| Title |
Patients affected with autosomal dominant monocytopenia with increased susceptibility to mycobacterial infection |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
We identified 18 patients with the distinct clinical phenotype of disseminated nontuberculous mycobacterial infections, viral infections, especially with human papillomaviruses, and fungal infections, primarily histoplasmosis and molds. This syndrome typically had its onset in adulthood and was characterized by profound circulating monocytopenia, B lymphocytopenia, and NK lymphocytopenia. T lymphocytes were variably affected. Despite these peripheral cytopenias, all patients had macrophages and plasma cells at sites of inflammation and normal immunoglobulin levels. This novel clinical syndrome links mycobacterial, viral, and fungal susceptibility with malignancy and is transmitted in an autosomal dominant pattern.
In order to elucidate the possible genetic defect that results in this novel clinical syndrome, we performed microarray expression analysis on polymorphonuclear leukocytes (PMNs) isolated from affected patients and healthy controls.
Keywords: healthy donor vs affected patient
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| Overall design |
Gene expression data for polymorphonuclear leukocytes (PMNs) isolated from the blood of affected patients and healthy donors. There are two separate data sets:
For the first data set, there are 7 healthy controls and 3 affected patients [Samples GSM400913-GSM400922].
For the second data set, there are 5 healthy controls and 5 affected patients [GSM400923-GSM400932].
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| Contributor(s) |
Vinh DC, Patel SY, Uzel G, Anderson VL, Freeman AF, Olivier KN, Spalding C, Hughes S, Pittaluga S, Raffeld M, Sorbara LR, Elloumi HZ, Kuhns DB, Turner ML, Cowen EW, Fink D, Long-Priel D, Hsu A, Ding L, Paulson ML, Whitney AR, Sampaio EP, Frucht DM, DeLeo FR, Holland SM |
| Citation(s) |
20040766 |
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| Submission date |
May 08, 2009 |
| Last update date |
Mar 25, 2019 |
| Contact name |
Addie Whitney |
| E-mail(s) |
awhitney@niaid.nih.gov
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| Organization name |
NIH/NIAID/RML
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| Department |
LHBP
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| Lab |
DeLeo
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| Street address |
903 S 4th St
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| City |
Hamilton |
| State/province |
MT |
| ZIP/Postal code |
59840 |
| Country |
USA |
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| Platforms (1) |
| GPL570 |
[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array |
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| Samples (20)
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| Relations |
| BioProject |
PRJNA115447 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE16020_RAW.tar |
92.1 Mb |
(http)(custom) |
TAR (of CEL, CHP) |
| Processed data included within Sample table |
| Processed data provided as supplementary file |
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