Bohlen and colleagues report that the E3 ubiquitin ligase CBL is necessary for the development, tolerance and activation of B cells in humans, unlike in mice where CBL deficiency results in loss of T ...

Journal of Human Immunity (JHI) publishes papers that provide novel insights into the physiology and pathology of human immunity through the study of genetic defects and their phenocopies, including t...

Most phenotype-associated genetic variants map to noncoding regulatory regions of the human genome, but their mechanisms remain elusive in most cases. We developed a highly efficient strategy, Perturb...

Deletion of thrombospondin-1 prevents inflammaging and preserves blood stem cell fitness during aging.

A new study shows that some of our cells favor genes of one parent or the other and can explain a longstanding mystery of why some people with disease-causing genes experience no symptoms.