OR11-006 - A mutation in NLRP1A causes autoinflammation

Introduction The NLRs (Nucleotide-binding domain and Leucine-rich repeat containing Receptors) are a family of intracellular innate immune receptors involved in host defense. Upon activation, NLRs form large protein complexes called “inflammasomes” that bind and activate Caspase-1, resulting in proteolytic activation of the pro-inflammatory cytokines pro-IL-1b and pro-IL-18 and also induce a Caspase-1-dependent form of cell death known as pyroptosis.