Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Transcription profiling of polymorphonuclear leukocyte from patients affected with autosomal dominant monocytopenia and an increased susceptibility to mycobacterial infection.


ABSTRACT: 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 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].

ORGANISM(S): Homo sapiens

SUBMITTER: Addie Whitney 

PROVIDER: E-GEOD-16020 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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We identified 18 patients with the distinct clinical phenotype of susceptibility to 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 (age range, 7-60 years; mean, 31.1 years; median, 32 years) and was characterized by profound circulating monocytopenia (mean, 13.3 cells/microL; median, 14.5 cells/microL), B lymphocytopenia (  ...[more]

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