Genetic Diseases and Invasive Infections in Infants 100 Days or Younger

Abstract

Background: Understanding the association of genetic diseases with invasive infections in neonates or infants is important, given the clinical and public health implications of genetic diseases. Methods: We conducted a retrospective case-control study over a 5-year period to investigate the association between genetic diseases and invasive infections in neonates or infants. The case group included 56 patients with laboratory-confirmed invasive infections and a genetic etiology identified by exome sequencing. Another 155 patients without a genetic etiology were selected as controls from the same pool of patients. Results: An overview of genetic diseases that predispose patients to develop invasive infections were outlined. We identified 7 independent predictors for genetic conditions, including prenatal findings [adjusted odds ratio (aOR), 38.44; 95% confidence interval (CI): 3.94–374.92], neonatal intensive care unit admission (aOR, 46.87; 95% CI: 6.30–348.93), invasive ventilation (aOR, 6.66; 95% CI: 3.07–14.46), bacterial infections (aOR, 0.21; 95% CI: 0.06–0.69), fever (aOR, 0.15; 95% CI: 0.08–0.30), anemia (aOR, 6.64; 95% CI: 3.02–14.59) and neutrophilia (aOR, 0.98; 95% CI: 0.96–0.99). The area under the curve for the predictive model was 0.921 (95% CI: 0.876–0.954). We also found that a genetic etiology [hazard ratio (HR), 7.25; 95% CI: 1.71–30.81], neurological manifestations (HR, 3.56; 95% CI: 1.29–9.88) and septic shock (HR, 13.83; 95% CI: 3.18–60.10) were associated with severe outcomes. Conclusions: Our study established predictive variables and risk factors for an underlying genetic etiology and its mortality in neonates or infants with invasive infections. These findings could lead to risk-directed screening and treatment strategies, which may improve patient outcomes.