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Blood, 1 April 2004, Vol. 103, No. 7, pp. 2809-2815. Prepublished online as a Blood First Edition Paper on November 20, 2003; DOI 10.1182/blood-2003-07-2531. This Article Full Text (PDF) All Versions of this Article: 2003-07-2531v1 103/7/2809    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Neven, B. Articles by de Saint Basile, G. Search for Related Content PubMed PubMed Citation Articles by Neven, B. Articles by de Saint Basile, G. Social Bookmarking                   What's this? Submitted July 29, 2003 Accepted November 13, 2003 Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated auto-inflammatory disorders (CINCA/NOMID, MWS, FCU) Benedicte Neven, Isabelle Callebaut, Anne-Marie Prieur, Jerome Feldmann, Christine Bodemer, Loredana Lepore, Beata Derfalvi, Suata Benjaponpitak, Richard Vesely, Marie Jose Sauvain, Stefan Oertle, Roger Allen, Gareth Morgan, Arndt Borkhardt, Clare Hill, Janet Gardner-Medwin, Alain Fischer, and Genevieve de Saint Basile* Unite de Recherche sur le Developpement Normal et Pathologique du Systeme Immunitaire, INSERM, Unite 429, Paris, France Departement de Biologie Structurale, LMCP, CNRS UMR7590, Universites Paris 6 & Paris 7, Paris, France Unite d'Immuno-Hematologie et Rhumatologie Pediatriques, Hopital Necker-Enfantes Malades, Paris, France Service de Dermatologie, Hopital Necker-Enfantes Malades, Paris, France Department of Pediatrics, IRCCS Burlo Garofolo Children's Hospital, Trieste, Italy Department of Pediatrics, Semmelweis University of Medicine, Budapest, Hungary Pediatric Allergy Ramathibodi Hospice, Bangkok, Thailand Pediatric Rheumatology Unit, Faculty Hospital, Kosice, Slovakia (Slovak Republic) Department of Pediatrics, University of Bern (Inselspital), Bern, Switzerland Department of Rheumatology and Clinical Immunology/Allergology, University of Bern (Inselspital), Bern, Switzerland Rheumatology and General Practice, Royal Children's Hospital, Melbourne, Australia Developmental Medicine (Paediatrics/Immunology), University of Wales, Sweansea, United Kingdom Department of Pediatric Hematology and Oncology, University of Giessen, Giessen, Germany Institute of Medical Genetics, University Hospital of Wales, Cardiff, United Kingdom Depatment of Child Health, Glasgow University, Glasgow, United Kingdom * Corresponding author; email: sbasile{at}necker.fr. NALPs proteins are recently identified members of the CATERPILLER family of proteins thought to function in apoptotic and inflammatory signalling pathways. Mutations in the CIAS1 gene which encodes a member of the NALP family, the cryopyrin/NALP3/PYPAF1 protein, expressed primarily in phagocytic cells, were recently found to be associated with a spectrum of autoinflammatory disorders: chronic infantile neurological cutaneous and articular (CINCA) syndrome (also known as Neonatal-onset multisystem inflammatory disease (NOMID)), Muckle-Wells syndrome (MWS) and familial cold urticaria (FCU). We describe herein seven new mutations in 13 unrelated patients with CINCA syndrome and identify mutational hotspots in CIAS1 on the basis of all mutations described to date. We also provide evidences of genotype/phenotype correlation. A three-dimensional model of the nucleotide-binding domain (NBD) of cryopyrin suggested that this molecule is structurally and functionally similar to members of the AAA+ protein family of ATPases. According to this model, most of the mutations known to affect residues of the NBD are clustered on one side of this domain in a region predicted to participate in intermolecular contacts. This suggests that this model is likely to be biologically relevant and that defects in nucleotide binding, nucleotide hydrolysis or protein oligomerization may lead to the functional dysregulation of cryopyrin in the MWS, FCU and CINCA/NOMID disorders. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: M. Gattorno, R. Caorsi, A. Meini, M. Cattalini, S. Federici, F. Zulian, E. Cortis, G. Calcagno, A. Tommasini, R. Consolini, et al. 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