An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

Nat Genet. 2014 Oct;46(10):1140-6. doi: 10.1038/ng.3089. Epub 2014 Sep 14.

Abstract

Inflammasomes are innate immune sensors that respond to pathogen- and damage-associated signals with caspase-1 activation, interleukin (IL)-1β and IL-18 secretion, and macrophage pyroptosis. The discovery that dominant gain-of-function mutations in NLRP3 cause the cryopyrin-associated periodic syndromes (CAPS) and trigger spontaneous inflammasome activation and IL-1β oversecretion led to successful treatment with IL-1-blocking agents. Herein we report a de novo missense mutation (c.1009A > T, encoding p.Thr337Ser) affecting the nucleotide-binding domain of the inflammasome component NLRC4 that causes early-onset recurrent fever flares and macrophage activation syndrome (MAS). Functional analyses demonstrated spontaneous inflammasome formation and production of the inflammasome-dependent cytokines IL-1β and IL-18, with the latter exceeding the levels seen in CAPS. The NLRC4 mutation caused constitutive caspase-1 cleavage in cells transduced with mutant NLRC4 and increased production of IL-18 in both patient-derived and mutant NLRC4-transduced macrophages. Thus, we describe a new monoallelic inflammasome defect that expands the monogenic autoinflammatory disease spectrum to include MAS and suggests new targets for therapy.

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • CARD Signaling Adaptor Proteins / genetics*
  • Calcium-Binding Proteins / genetics*
  • Child
  • Exome / genetics
  • Female
  • Gene Expression Profiling
  • Humans
  • Inflammasomes / genetics*
  • Inflammation / blood
  • Inflammation / genetics*
  • Interleukin-18 / blood
  • Interleukin-18 / metabolism
  • Macrophage Activation Syndrome / blood
  • Macrophage Activation Syndrome / genetics*
  • Macrophages / metabolism
  • Molecular Sequence Data
  • Mutation, Missense*
  • Oligonucleotide Array Sequence Analysis
  • Sequence Analysis, DNA
  • Sequence Homology, Amino Acid

Substances

  • CARD Signaling Adaptor Proteins
  • Calcium-Binding Proteins
  • Inflammasomes
  • Interleukin-18
  • NLRC4 protein, human

Associated data

  • GEO/GSE57253