Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency.

ABSTRACT: BACKGROUND:Cytomegalovirus (CMV) can cause severe disease in children and adults with a variety of inherited or acquired T-cell immunodeficiencies, who are prone to multiple infections. It can also rarely cause disease in otherwise healthy persons. The pathogenesis of idiopathic CMV disease is unknown. Inbred mice that lack the gene encoding nitric oxide synthase 2 (Nos2) are susceptible to the related murine CMV infection. METHODS:We studied a previously healthy 51-year-old man from Iran who after acute CMV infection had an onset of progressive CMV disease that led to his death 29 months later. We hypothesized that the patient may have had a novel type of inborn error of immunity. Thus, we performed whole-exome sequencing and tested candidate mutant alleles experimentally. RESULTS:We foun

SUBMITTER: Drutman SB 

PROVIDER: S-EPMC7063989 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature