A human immunodeficiency syndrome caused by mutations in CARMIL2

Volume: 8, Issue: 1
Published: Jan 23, 2017
Abstract
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...
Paper Details
Title
A human immunodeficiency syndrome caused by mutations in CARMIL2
Published Date
Jan 23, 2017
Volume
8
Issue
1
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