combined immunodeficiencyResearch
A study identifies a homozygous loss-of-function mutation in the SIT1 gene as a cause of combined immunodeficiency, resulting from dysregulated T cell receptor signaling. This discovery enhances understanding of the genetic basis of this rare immune disorder.
homozygous loss of function mutation in sit1 leads to combined immunodeficiency due to dysregulated t cell receptor signaling
Original title: “Homozygous loss-of-function mutation in SIT1 leads to combined immunodeficiency due to dysregulated T cell receptor signaling.”