Autoinflammatory syndrome articles within Nature Communications

Featured

• Article
  06 February 2024 | Open Access

  Pathogenic NLRP3 mutants form constitutively active inflammasomes resulting in immune-metabolic limitation of IL-1β production

  Gain-of-function mutations in NLRP3 result in Cryopyrin-Associated Periodic Syndrome in human patients. Here authors show that although these NLRP3 variants are constitutively active, they preserve their responsiveness to external pro-inflammatory stimuli, and they interfere with the immune-metabolic inflammatory pathways in monocytes.

  • Cristina Molina-López
  • , Laura Hurtado-Navarro
  •  & Pablo Pelegrin

• Article
  17 March 2023 | Open Access

  Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome

  Neutrophilic inflammation is a hallmark of many monogenic autoinflammatory diseases. Here the authors report a case series of three unrelated boys with perinatal-onset of neutrophilic cutaneous small vessel vasculitis and systemic inflammation, and identify de novo truncating and missense variants in the Src-family tyrosine kinase LYN.

  • Adriana A. de Jesus
  • , Guibin Chen
  •  & Raphaela Goldbach-Mansky

• Article
  28 April 2022 | Open Access

  Deficiency in coatomer complex I causes aberrant activation of STING signalling

  Mutations in the coatomer complex I can result in endoplasmic reticulum stress and inflammatory consequences. Here authors define aberrant activation of the STING immunosensing pathway in a disturbed coatmer complex context and the therapeutic modulation of this axis to counter the associated immunopathology.

  • Annemarie Steiner
  • , Katja Hrovat-Schaale
  •  & Seth L. Masters

• Article
  10 January 2020 | Open Access

  Cold-induced urticarial autoinflammatory syndrome related to factor XII activation

  Systemic autoinflammatory syndromes such as cryopyrin-associated periodic syndrome (CAPS) are rare and often involve genes related to the inflammasome. Here, the authors report a syndrome characterised by systemic inflammation and cold-induced urticarial rash associated with a Factor XII-activating mutation.

  • Jörg Scheffel
  • , Niklas A. Mahnke
  •  & Karoline Krause

• Article
  19 December 2017 | Open Access

  Type I interferon-mediated autoinflammation due to DNase II deficiency

  Nucleic acid sensing is important to ensure that an innate immune response is only mounted against microbial nucleic acid. Here, the authors identify loss-of-function mutations in the DNASE2 gene that cause type I interferon-mediated autoinflammation due to enhanced systemic interferon signaling.

  • Mathieu P. Rodero
  • , Alessandra Tesser
  •  & Yanick J. Crow