Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis

Significance Recurrent respiratory papillomatosis is a disease caused by the human papillomavirus that leads to growth of warts in the throat. We report 2 brothers with a form of this disease that involves a mutation in the NLRP1 gene. This study provides a genetic explanation for our patients’ disease and suggests that other people may suffer from the same genetic disease. It also expands our understanding of diseases caused by mutations in NLRP1 .