July 24, 2020

Presence of Genetic Variants Among Young Men With Severe COVID-19.

Category: Article Summary

Topic: Clinical Characteristics and Health Care Setting

• A rare genetic mutation was identified in two sets of brothers who had severe COVID-19 disease. A case series reported by van der Made et al. included two sets of brothers under age 35 (mean age 26) without pre-existing medical conditions who were hospitalized with severe COVID-19 in the Netherlands. All four men required mechanical ventilation in the ICU and one died. Whole-exome sequencing and basic genetic and immunological tests identified a loss-of-function X-chromosomal TLR7 gene variant that is associated with impaired type I and II interferon responses.   

van der Made et al. (2020). Presence of Genetic Variants Among Young Men With Severe COVID-19. JAMA. https://doi.org/10.1001/jama.2020.13719