Open Forum Infectious Diseases · 2017 · 34 citations · 12 references
Life SciencesImmunologyInfectious DiseasesImmunogeneticsImmunology Of Infectious DiseasesImmunopathologyAutoimmune DiseasesImmune DysfunctionImmunodeficiency DisordersImmunopathology Of Infectious DiseasesOpportunistic InfectionsSecondary ImmunodeficiencyCell-mediated Immunity DefectsCryptococcal ImmunologyHost-pathogen Susceptibility VariantsImmune Dysregulation In InfectionInnate Immune DefectsMeningococcal Disease SusceptibilityMonogenic SyndromesMutation
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.
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Serologic Evidence for<i>Cryptococcus neoformans</i>Infection in Early Childhood
David L. Goldman, Hnin Khine, Jacob Abadi et al. · PEDIATRICS · 2001 · 419 citations