Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.

@article{Neven2004MolecularBO,
  title={Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.},
  author={B{\'e}n{\'e}dicte Neven and Isabelle Callebaut and A Prieur and J{\'e}r{\^o}me Feldmann and Christine Bodemer and Loredana Lepore and Be{\'a}ta D{\'e}rfalvi and Suata Benjaponpitak and Richard Vesely and Marie Jose Sauvain and Stefan Oertle and Roger Allen and Gareth Morgan and Arndt Borkhardt and Clare J Hill and Janet MM Gardner-Medwin and Alain Fischer and Genevi{\`e}ve de Saint Basile},
  journal={Blood},
  year={2004},
  volume={103 7},
  pages={2809-15}
}
NALP proteins are recently identified members of the CATERPILLER (CARD, transcription enhancer, R(purine)-binding, pyrin, lots of LRR) family of proteins, thought to function in apoptotic and inflammatory signaling pathways. Mutations in the CIAS1 gene, which encodes a member of the NALP (NACHT-, LRR-, and PYD-containing proteins) family, the cryopyrin/NALP3/PYPAF1 protein, expressed primarily in phagocytic cells, were recently found to be associated with a spectrum of autoinflammatory… CONTINUE READING

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