Susceptibility to Cryptococcal Meningoencephalitis Associated With Idiopathic CD4⁺ Lymphopenia and Secondary Germline or Acquired Defects.

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.

SUBMITTER: Panackal AA 

PROVIDER: S-EPMC5461987 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature