Susceptibility to Cryptococcal Meningoencephalitis Associated With Idiopathic CD4+ Lymphopenia and Secondary Germline or Acquired Defects
Year: 2017
Type: article
Study design: Case Report
Abstract: lymphopenia (ICL) predisposes to opportunistic infections (OIs) but can often remain asymptomatic and does not have a strong association with monogenic mutations. Likewise, cryptococcal meningoencephalitis, the most common OI in ICL, is not strongly associated with monogenic mutations. In this study, we describe 2 patients with ICL plus an additional immune defect: one from an E57K genetic mutation in the nuclear factor-κβ essential modulator, and the other with acquired autoantibodies to granulocyte-macrophage colony-stimulating factor. Thus, these cases may exemplify a "multi-hit model" in patients with ICL who acquire OIs.
Source: Open Forum Infectious Diseases
DOI: 10.1093/ofid/ofx082
Institutions: National Institutes of Health, Uniformed Services University of the Health Sciences, National Institute of Allergy and Infectious Diseases, National Human Genome Research Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Leidos Biomedical Research Inc. (United States), National Institutes of Health Clinical Center
Language: English
Subfield: Epidemiology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $4,053
OpenAlex ID: W2621474592