MTOR and BENTA disease: BENTA disease is caused by heterozygous gain-of function (GOF) mutations in the gene CARD11. CARD11 encodes a lymphocyte-restricted scaffold protein (also known as CARMA1) that bridges antigen receptor (AgR) engagement with various downstream signaling pathways, such as c-Jun N-terminal kinase (JNK), mechanistic target of rapamycin (mTOR), and most notably, the canonical NF-κB pathway (3–5).