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Series GSE16020 Query DataSets for GSE16020
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
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
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].
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
Submission date May 08, 2009
Last update date Mar 25, 2019
Contact name Addie Whitney
Organization name NIH/NIAID/RML
Department LHBP
Lab DeLeo
Street address 903 S 4th St
City Hamilton
State/province MT
ZIP/Postal code 59840
Country USA
Platforms (1)
GPL570 [HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array
Samples (20)
GSM400913 PMN_control_1_RNeasy
GSM400914 PMN_control_2_RNeasy
GSM400915 PMN_control_3_RNeasy
BioProject PRJNA115447

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

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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