Rare variants at 16p11.2 are associated with common variable immunodeficiency

BackgroundCommon variable immunodeficiency (CVID) is characterized clinically by inadequate quantity and quality of serum immunoglobulins with increased susceptibility to infections, resulting in significant morbidity and mortality. Only a few genes have been uncovered, and the genetic background of CVID remains elusive to date for the majority of patients.ObjectiveWe sought to seek novel associations of genes and genetic variants with...