A human immunodeficiency syndrome caused by mutations in CARMIL2

Human T-cell function is dependent on T-cell antigen receptor (TCR) and co-signalling as evidenced by immunodeficiencies affecting TCR-dependent signalling pathways. Here, we show four human patients with EBV + disseminated smooth muscle tumours that carry two homozygous loss-of-function mutations in the CARMIL2 ( RLTPR ) gene encoding the capping protein regulator and myosin 1 linker 2. These patients lack regulatory T cells without evidence of...