In summary, Majeed syndrome is a rare autosomal recessive disorder due to loss of function mutations in LPIN2. Low intra cellular cholesterol leads to altered function of the P2X7R and subsequent K+ efflux and NLRP3 inflammasome activation leading to enhance production of proinflammatory cytokines including IL-1. The gene discussed is NLRP3; the disease is Majeed syndrome.