| Literature DB >> 28638843 |
Anil A Panackal1,2, Lindsey B Rosen1, Gulbu Uzel1, Michael J Davis1, Guowu Hu1, Adebowale Adeyemo3, Fasil Tekola-Ayele4, Andrea Lisco5, Christopher Diachok1, Jonathan D Kim1, Dawn Shaw6, Irini Sereti5, Jennifer Stoddard7, Julie Niemela7, Sergio D Rosenzweig7, John E Bennett1,2, Peter R Williamson1.
Abstract
Idiopathic CD4+ 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.Entities:
Keywords: Cryptococcus; autoantibody; idiopathic CD4+ lymphopenia.; meningoencephalitis
Year: 2017 PMID: 28638843 PMCID: PMC5461987 DOI: 10.1093/ofid/ofx082
Source DB: PubMed Journal: Open Forum Infect Dis ISSN: 2328-8957 Impact factor: 3.835