Patients affected with autosomal dominant monocytopenia with 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

ORGANISM(S): Homo sapiens

PROVIDER: GSE16020 | GEO | 2010/01/01

SECONDARY ACCESSION(S): PRJNA115447

REPOSITORIES: GEO