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Article

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

Blood - 1 Apr 2004

Neven Bénédicte, Callebaut Isabelle, Prieur Anne-Marie, Feldmann Jérôme, Bodemer Christine, Lepore Loredana, Derfalvi Beata, Benjaponpitak Suata, Vesely Richard, Sauvain Marie Jose, Oertle Stefan, Allen Roger, Morgan Gareth, Borkhardt Arndt, Hill Clare, Gardner-Medwin Janet, Fischer Alain, de Saint Basile Geneviève

Abstract excerpt

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...

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Identifiers

PMID: 14630794
DOI: 10.1182/blood-2003-07-2531

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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