AustralieFrV1, PascalFrancis, Corpus, bibRecord, 004E18

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

Identifieur interne : 004E18 ( PascalFrancis/Corpus ); précédent : 004E17; suivant : 004E19

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

Auteurs : Bénédicte Neven ; Isabelle Callebaut ; Anne-Marie Prieur ; Jérome 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 ; Geneviève De Saint Basile

Source :

Blood [ 0006-4971 ] ; 2004.

RBID : Pascal:04-0374689

Descripteurs français

Pascal (Inist)
- Phagocyte, Inflammation, Transduction signal, Apoptose, Mutation, Maladie autoimmune, Muckle syndrome, Urticaire, Structure moléculaire, Affinité, Nucléotide, Homme, Protéine NALP, Gène CIAS 1, Protéines CATEPILLER, Syndrome CINCA, Urticaire au froid familial.

English descriptors

KwdEn :
- Affinity, Apoptosis, Autoimmune disease, CINCA syndrome, Familial cold urticaria, Human, Inflammation, Molecular structure, Muckle syndrome, Mutation, Nucleotide, Phagocyte, Signal transduction, Urticaria.

Abstract

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 disorders. These Include chronic infantile neurologic 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 7 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 evidence of genotype/phenotype correlations. A 3-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, suggesting 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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 0006-4971`
A03		`1`		`@0 Blood`
A05				`@2 103`
A06				`@2 7`
A08	`01`	`1`	`ENG`	`@1 Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU`
A11	`01`	`1`		`@1 NEVEN (Bénédicte)`
A11	`02`	`1`		`@1 CALLEBAUT (Isabelle)`
A11	`03`	`1`		`@1 PRIEUR (Anne-Marie)`
A11	`04`	`1`		`@1 FELDMANN (Jérome)`
A11	`05`	`1`		`@1 BODEMER (Christine)`
A11	`06`	`1`		`@1 LEPORE (Loredana)`
A11	`07`	`1`		`@1 DERFALVI (Beata)`
A11	`08`	`1`		`@1 BENJAPONPITAK (Suata)`
A11	`09`	`1`		`@1 VESELY (Richard)`
A11	`10`	`1`		`@1 SAUVAIN (Marie Jose)`
A11	`11`	`1`		`@1 OERTLE (Stefan)`
A11	`12`	`1`		`@1 ALLEN (Roger)`
A11	`13`	`1`		`@1 MORGAN (Gareth)`
A11	`14`	`1`		`@1 BORKHARDT (Arndt)`
A11	`15`	`1`		`@1 HILL (Clare)`
A11	`16`	`1`		`@1 GARDNER-MEDWIN (Janet)`
A11	`17`	`1`		`@1 FISCHER (Alain)`
A11	`18`	`1`		`@1 DE SAINT BASILE (Geneviève)`
A14	`01`			`@1 Unité de Recherche sur le développement normal et pathologique du systeme immunitaire INSERM U429, Unite d'Immuno-hématologie et Rhumatologie Pédiatriques, and Service de Dermatologie, Hôpital Necker-Enfants Malades @2 Paris @3 FRA`
A14	`02`			`@1 Département de Biologie Structurale, CNRS UMR7590, Universités Paris 6 and Paris 7 @3 FRA`
A14	`03`			`@1 Department of Pediatrics, IRCCS Burto Garofolo Children's Hospital @2 Trieste @3 ITA`
A14	`04`			`@1 Department of Pediatrics, Semmelweis University of Medicine @2 Budapest @3 HUN`
A14	`05`			`@1 Pediatric Allergy Ramathibodi Hospice @2 Bangkok @3 THA`
A14	`06`			`@1 Faculty Hospital, Pediatric Rheumatology Unit @2 Kosice @3 SVK`
A14	`07`			`@1 Department of Pediatrics, University of Bern (Inselsptal), and Department of Rheumatology and Clinical Immunology/Allergology, University Hospital (Inselspital) @2 Bern @3 CHE`
A14	`08`			`@1 Rheumatology and General Practice, Royal Chidren's Hospital @2 Melbourne @3 AUS`
A14	`09`			`@1 Developmental Medicine (Paediatrics/Immunology), University of Wales @2 Swansea @3 GBR`
A14	`10`			`@1 Institute of Medical Genetics, Institute of Medical Genetics, University Hospital of Wales @2 Cardiff @3 GBR`
A14	`11`			`@1 Department of Pediatric Hematology and Oncology, University of Gieseen @3 DEU`
A14	`12`			`@1 Department of Child Health, Glasgow University @3 GBR`
A20				`@1 2809-2815`
A21				`@1 2004`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 3178`
A44				`@0 A200`
A45				`@0 45 ref.`
A47	`01`	`1`		`@0 04-0374689`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Blood`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 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 disorders. These Include chronic infantile neurologic 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 7 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 evidence of genotype/phenotype correlations. A 3-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, suggesting 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.
C02	`01`	`X`		`@0 002B07`
C03	`01`	`X`	`FRE`	`@0 Phagocyte @5 01`
C03	`01`	`X`	`ENG`	`@0 Phagocyte @5 01`
C03	`01`	`X`	`SPA`	`@0 Fagocito @5 01`
C03	`02`	`X`	`FRE`	`@0 Inflammation @5 02`
C03	`02`	`X`	`ENG`	`@0 Inflammation @5 02`
C03	`02`	`X`	`SPA`	`@0 Inflamación @5 02`
C03	`03`	`X`	`FRE`	`@0 Transduction signal @5 03`
C03	`03`	`X`	`ENG`	`@0 Signal transduction @5 03`
C03	`03`	`X`	`SPA`	`@0 Transducción señal @5 03`
C03	`04`	`X`	`FRE`	`@0 Apoptose @5 04`
C03	`04`	`X`	`ENG`	`@0 Apoptosis @5 04`
C03	`04`	`X`	`SPA`	`@0 Apoptosis @5 04`
C03	`05`	`X`	`FRE`	`@0 Mutation @5 05`
C03	`05`	`X`	`ENG`	`@0 Mutation @5 05`
C03	`05`	`X`	`SPA`	`@0 Mutación @5 05`
C03	`06`	`X`	`FRE`	`@0 Maladie autoimmune @5 06`
C03	`06`	`X`	`ENG`	`@0 Autoimmune disease @5 06`
C03	`06`	`X`	`SPA`	`@0 Enfermedad autoinmune @5 06`
C03	`07`	`X`	`FRE`	`@0 Muckle syndrome @5 07`
C03	`07`	`X`	`ENG`	`@0 Muckle syndrome @5 07`
C03	`07`	`X`	`SPA`	`@0 Muckle síndrome @5 07`
C03	`08`	`X`	`FRE`	`@0 Urticaire @5 08`
C03	`08`	`X`	`ENG`	`@0 Urticaria @5 08`
C03	`08`	`X`	`SPA`	`@0 Urticaria @5 08`
C03	`09`	`X`	`FRE`	`@0 Structure moléculaire @5 09`
C03	`09`	`X`	`ENG`	`@0 Molecular structure @5 09`
C03	`09`	`X`	`SPA`	`@0 Estructura molecular @5 09`
C03	`10`	`X`	`FRE`	`@0 Affinité @5 10`
C03	`10`	`X`	`ENG`	`@0 Affinity @5 10`
C03	`10`	`X`	`SPA`	`@0 Afinidad @5 10`
C03	`11`	`X`	`FRE`	`@0 Nucléotide @5 11`
C03	`11`	`X`	`ENG`	`@0 Nucleotide @5 11`
C03	`11`	`X`	`SPA`	`@0 Nucleótido @5 11`
C03	`12`	`X`	`FRE`	`@0 Homme @5 17`
C03	`12`	`X`	`ENG`	`@0 Human @5 17`
C03	`12`	`X`	`SPA`	`@0 Hombre @5 17`
C03	`13`	`X`	`FRE`	`@0 Protéine NALP @4 INC @5 86`
C03	`14`	`X`	`FRE`	`@0 Gène CIAS 1 @4 INC @5 88`
C03	`15`	`X`	`FRE`	`@0 Protéines CATEPILLER @4 INC @5 93`
C03	`16`	`X`	`FRE`	`@0 Syndrome CINCA @4 CD @5 97`
C03	`16`	`X`	`ENG`	`@0 CINCA syndrome @4 CD @5 97`
C03	`17`	`X`	`FRE`	`@0 Urticaire au froid familial @4 CD @5 99`
C03	`17`	`X`	`ENG`	`@0 Familial cold urticaria @4 CD @5 99`
C07	`01`	`X`	`FRE`	`@0 Peau pathologie @5 53`
C07	`01`	`X`	`ENG`	`@0 Skin disease @5 53`
C07	`01`	`X`	`SPA`	`@0 Piel patología @5 53`
C07	`02`	`X`	`FRE`	`@0 ORL pathologie @5 54`
C07	`02`	`X`	`ENG`	`@0 ENT disease @5 54`
C07	`02`	`X`	`SPA`	`@0 ORL patología @5 54`
C07	`03`	`X`	`FRE`	`@0 Système ostéoarticulaire pathologie @5 55`
C07	`03`	`X`	`ENG`	`@0 Diseases of the osteoarticular system @5 55`
C07	`03`	`X`	`SPA`	`@0 Sistema osteoarticular patología @5 55`
C07	`04`	`X`	`FRE`	`@0 Métabolisme pathologie @5 56`
C07	`04`	`X`	`ENG`	`@0 Metabolic diseases @5 56`
C07	`04`	`X`	`SPA`	`@0 Metabolismo patología @5 56`
C07	`05`	`X`	`FRE`	`@0 Maladie héréditaire @5 57`
C07	`05`	`X`	`ENG`	`@0 Genetic disease @5 57`
C07	`05`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 57`
C07	`06`	`X`	`FRE`	`@0 Appareil urinaire pathologie @5 58`
C07	`06`	`X`	`ENG`	`@0 Urinary system disease @5 58`
C07	`06`	`X`	`SPA`	`@0 Aparato urinario patología @5 58`
C07	`07`	`X`	`FRE`	`@0 Enzymopathie @5 59`
C07	`07`	`X`	`ENG`	`@0 Enzymopathy @5 59`
C07	`07`	`X`	`SPA`	`@0 Enzimopatía @5 59`
N21				`@1 215`
N44	`01`			`@1 PSI`
N82				`@1 PSI`

Format Inist (serveur)

NO :	PASCAL 04-0374689 LBEI
ET :	Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU
AU :	NEVEN (Bénédicte); CALLEBAUT (Isabelle); PRIEUR (Anne-Marie); FELDMANN (Jérome); 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)
AF :	Unité de Recherche sur le développement normal et pathologique du systeme immunitaire INSERM U429, Unite d'Immuno-hématologie et Rhumatologie Pédiatriques, and Service de Dermatologie, Hôpital Necker-Enfants Malades/Paris/France; Département de Biologie Structurale, CNRS UMR7590, Universités Paris 6 and Paris 7/France; Department of Pediatrics, IRCCS Burto Garofolo Children's Hospital/Trieste/Italie; Department of Pediatrics, Semmelweis University of Medicine/Budapest/Hongrie; Pediatric Allergy Ramathibodi Hospice/Bangkok/Thaïlande; Faculty Hospital, Pediatric Rheumatology Unit/Kosice/Slovaquie; Department of Pediatrics, University of Bern (Inselsptal), and Department of Rheumatology and Clinical Immunology/Allergology, University Hospital (Inselspital)/Bern/Suisse; Rheumatology and General Practice, Royal Chidren's Hospital/Melbourne/Australie; Developmental Medicine (Paediatrics/Immunology), University of Wales/Swansea/Royaume-Uni; Institute of Medical Genetics, Institute of Medical Genetics, University Hospital of Wales/Cardiff/Royaume-Uni; Department of Pediatric Hematology and Oncology, University of Gieseen/Allemagne; Department of Child Health, Glasgow University/Royaume-Uni
DT :	Publication en série; Niveau analytique
SO :	Blood; ISSN 0006-4971; Etats-Unis; Da. 2004; Vol. 103; No. 7; Pp. 2809-2815; Bibl. 45 ref.
LA :	Anglais
EA :	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 disorders. These Include chronic infantile neurologic 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 7 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 evidence of genotype/phenotype correlations. A 3-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, suggesting 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.
CC :	002B07
FD :	Phagocyte; Inflammation; Transduction signal; Apoptose; Mutation; Maladie autoimmune; Muckle syndrome; Urticaire; Structure moléculaire; Affinité; Nucléotide; Homme; Protéine NALP; Gène CIAS 1; Protéines CATEPILLER; Syndrome CINCA; Urticaire au froid familial
FG :	Peau pathologie; ORL pathologie; Système ostéoarticulaire pathologie; Métabolisme pathologie; Maladie héréditaire; Appareil urinaire pathologie; Enzymopathie
ED :	Phagocyte; Inflammation; Signal transduction; Apoptosis; Mutation; Autoimmune disease; Muckle syndrome; Urticaria; Molecular structure; Affinity; Nucleotide; Human; CINCA syndrome; Familial cold urticaria
EG :	Skin disease; ENT disease; Diseases of the osteoarticular system; Metabolic diseases; Genetic disease; Urinary system disease; Enzymopathy
SD :	Fagocito; Inflamación; Transducción señal; Apoptosis; Mutación; Enfermedad autoinmune; Muckle síndrome; Urticaria; Estructura molecular; Afinidad; Nucleótido; Hombre
LO :	INIST-3178
ID :	04-0374689

Links to Exploration step

Pascal:04-0374689

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU</title>
<author><name sortKey="Neven, Benedicte" sort="Neven, Benedicte" uniqKey="Neven B" first="Bénédicte" last="Neven">Bénédicte Neven</name>
<affiliation><inist:fA14 i1="01"><s1>Unité de Recherche sur le développement normal et pathologique du systeme immunitaire INSERM U429, Unite d'Immuno-hématologie et Rhumatologie Pédiatriques, and Service de Dermatologie, Hôpital Necker-Enfants Malades</s1>
<s2>Paris</s2>
<s3>FRA</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Département de Biologie Structurale, CNRS UMR7590, Universités Paris 6 and Paris 7</s1>
<s3>FRA</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="03"><s1>Department of Pediatrics, IRCCS Burto Garofolo Children's Hospital</s1>
<s2>Trieste</s2>
<s3>ITA</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="04"><s1>Department of Pediatrics, Semmelweis University of Medicine</s1>
<s2>Budapest</s2>
<s3>HUN</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="05"><s1>Pediatric Allergy Ramathibodi Hospice</s1>
<s2>Bangkok</s2>
<s3>THA</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="06"><s1>Faculty Hospital, Pediatric Rheumatology Unit</s1>
<s2>Kosice</s2>
<s3>SVK</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="07"><s1>Department of Pediatrics, University of Bern (Inselsptal), and Department of Rheumatology and Clinical Immunology/Allergology, University Hospital (Inselspital)</s1>
<s2>Bern</s2>
<s3>CHE</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="08"><s1>Rheumatology and General Practice, Royal Chidren's Hospital</s1>
<s2>Melbourne</s2>
<s3>AUS</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="09"><s1>Developmental Medicine (Paediatrics/Immunology), University of Wales</s1>
<s2>Swansea</s2>
<s3>GBR</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="10"><s1>Institute of Medical Genetics, Institute of Medical Genetics, University Hospital of Wales</s1>
<s2>Cardiff</s2>
<s3>GBR</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="11"><s1>Department of Pediatric Hematology and Oncology, University of Gieseen</s1>
<s3>DEU</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="12"><s1>Department of Child Health, Glasgow University</s1>
<s3>GBR</s3>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Callebaut, Isabelle" sort="Callebaut, Isabelle" uniqKey="Callebaut I" first="Isabelle" last="Callebaut">Isabelle Callebaut</name>
</author>
<author><name sortKey="Prieur, Anne Marie" sort="Prieur, Anne Marie" uniqKey="Prieur A" first="Anne-Marie" last="Prieur">Anne-Marie Prieur</name>
</author>
<author><name sortKey="Feldmann, Jerome" sort="Feldmann, Jerome" uniqKey="Feldmann J" first="Jérome" last="Feldmann">Jérome Feldmann</name>
</author>
<author><name sortKey="Bodemer, Christine" sort="Bodemer, Christine" uniqKey="Bodemer C" first="Christine" last="Bodemer">Christine Bodemer</name>
</author>
<author><name sortKey="Lepore, Loredana" sort="Lepore, Loredana" uniqKey="Lepore L" first="Loredana" last="Lepore">Loredana Lepore</name>
</author>
<author><name sortKey="Derfalvi, Beata" sort="Derfalvi, Beata" uniqKey="Derfalvi B" first="Beata" last="Derfalvi">Beata Derfalvi</name>
</author>
<author><name sortKey="Benjaponpitak, Suata" sort="Benjaponpitak, Suata" uniqKey="Benjaponpitak S" first="Suata" last="Benjaponpitak">Suata Benjaponpitak</name>
</author>
<author><name sortKey="Vesely, Richard" sort="Vesely, Richard" uniqKey="Vesely R" first="Richard" last="Vesely">Richard Vesely</name>
</author>
<author><name sortKey="Sauvain, Marie Jose" sort="Sauvain, Marie Jose" uniqKey="Sauvain M" first="Marie Jose" last="Sauvain">Marie Jose Sauvain</name>
</author>
<author><name sortKey="Oertle, Stefan" sort="Oertle, Stefan" uniqKey="Oertle S" first="Stefan" last="Oertle">Stefan Oertle</name>
</author>
<author><name sortKey="Allen, Roger" sort="Allen, Roger" uniqKey="Allen R" first="Roger" last="Allen">Roger Allen</name>
</author>
<author><name sortKey="Morgan, Gareth" sort="Morgan, Gareth" uniqKey="Morgan G" first="Gareth" last="Morgan">Gareth Morgan</name>
</author>
<author><name sortKey="Borkhardt, Arndt" sort="Borkhardt, Arndt" uniqKey="Borkhardt A" first="Arndt" last="Borkhardt">Arndt Borkhardt</name>
</author>
<author><name sortKey="Hill, Clare" sort="Hill, Clare" uniqKey="Hill C" first="Clare" last="Hill">Clare Hill</name>
</author>
<author><name sortKey="Gardner Medwin, Janet" sort="Gardner Medwin, Janet" uniqKey="Gardner Medwin J" first="Janet" last="Gardner-Medwin">Janet Gardner-Medwin</name>
</author>
<author><name sortKey="Fischer, Alain" sort="Fischer, Alain" uniqKey="Fischer A" first="Alain" last="Fischer">Alain Fischer</name>
</author>
<author><name sortKey="De Saint Basile, Genevieve" sort="De Saint Basile, Genevieve" uniqKey="De Saint Basile G" first="Geneviève" last="De Saint Basile">Geneviève De Saint Basile</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">04-0374689</idno>
<date when="2004">2004</date>
<idno type="stanalyst">PASCAL 04-0374689 LBEI</idno>
<idno type="RBID">Pascal:04-0374689</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">004E18</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU</title>
<author><name sortKey="Neven, Benedicte" sort="Neven, Benedicte" uniqKey="Neven B" first="Bénédicte" last="Neven">Bénédicte Neven</name>
<affiliation><inist:fA14 i1="01"><s1>Unité de Recherche sur le développement normal et pathologique du systeme immunitaire INSERM U429, Unite d'Immuno-hématologie et Rhumatologie Pédiatriques, and Service de Dermatologie, Hôpital Necker-Enfants Malades</s1>
<s2>Paris</s2>
<s3>FRA</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Département de Biologie Structurale, CNRS UMR7590, Universités Paris 6 and Paris 7</s1>
<s3>FRA</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="03"><s1>Department of Pediatrics, IRCCS Burto Garofolo Children's Hospital</s1>
<s2>Trieste</s2>
<s3>ITA</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="04"><s1>Department of Pediatrics, Semmelweis University of Medicine</s1>
<s2>Budapest</s2>
<s3>HUN</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="05"><s1>Pediatric Allergy Ramathibodi Hospice</s1>
<s2>Bangkok</s2>
<s3>THA</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="06"><s1>Faculty Hospital, Pediatric Rheumatology Unit</s1>
<s2>Kosice</s2>
<s3>SVK</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="07"><s1>Department of Pediatrics, University of Bern (Inselsptal), and Department of Rheumatology and Clinical Immunology/Allergology, University Hospital (Inselspital)</s1>
<s2>Bern</s2>
<s3>CHE</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="08"><s1>Rheumatology and General Practice, Royal Chidren's Hospital</s1>
<s2>Melbourne</s2>
<s3>AUS</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="09"><s1>Developmental Medicine (Paediatrics/Immunology), University of Wales</s1>
<s2>Swansea</s2>
<s3>GBR</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="10"><s1>Institute of Medical Genetics, Institute of Medical Genetics, University Hospital of Wales</s1>
<s2>Cardiff</s2>
<s3>GBR</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="11"><s1>Department of Pediatric Hematology and Oncology, University of Gieseen</s1>
<s3>DEU</s3>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="12"><s1>Department of Child Health, Glasgow University</s1>
<s3>GBR</s3>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Callebaut, Isabelle" sort="Callebaut, Isabelle" uniqKey="Callebaut I" first="Isabelle" last="Callebaut">Isabelle Callebaut</name>
</author>
<author><name sortKey="Prieur, Anne Marie" sort="Prieur, Anne Marie" uniqKey="Prieur A" first="Anne-Marie" last="Prieur">Anne-Marie Prieur</name>
</author>
<author><name sortKey="Feldmann, Jerome" sort="Feldmann, Jerome" uniqKey="Feldmann J" first="Jérome" last="Feldmann">Jérome Feldmann</name>
</author>
<author><name sortKey="Bodemer, Christine" sort="Bodemer, Christine" uniqKey="Bodemer C" first="Christine" last="Bodemer">Christine Bodemer</name>
</author>
<author><name sortKey="Lepore, Loredana" sort="Lepore, Loredana" uniqKey="Lepore L" first="Loredana" last="Lepore">Loredana Lepore</name>
</author>
<author><name sortKey="Derfalvi, Beata" sort="Derfalvi, Beata" uniqKey="Derfalvi B" first="Beata" last="Derfalvi">Beata Derfalvi</name>
</author>
<author><name sortKey="Benjaponpitak, Suata" sort="Benjaponpitak, Suata" uniqKey="Benjaponpitak S" first="Suata" last="Benjaponpitak">Suata Benjaponpitak</name>
</author>
<author><name sortKey="Vesely, Richard" sort="Vesely, Richard" uniqKey="Vesely R" first="Richard" last="Vesely">Richard Vesely</name>
</author>
<author><name sortKey="Sauvain, Marie Jose" sort="Sauvain, Marie Jose" uniqKey="Sauvain M" first="Marie Jose" last="Sauvain">Marie Jose Sauvain</name>
</author>
<author><name sortKey="Oertle, Stefan" sort="Oertle, Stefan" uniqKey="Oertle S" first="Stefan" last="Oertle">Stefan Oertle</name>
</author>
<author><name sortKey="Allen, Roger" sort="Allen, Roger" uniqKey="Allen R" first="Roger" last="Allen">Roger Allen</name>
</author>
<author><name sortKey="Morgan, Gareth" sort="Morgan, Gareth" uniqKey="Morgan G" first="Gareth" last="Morgan">Gareth Morgan</name>
</author>
<author><name sortKey="Borkhardt, Arndt" sort="Borkhardt, Arndt" uniqKey="Borkhardt A" first="Arndt" last="Borkhardt">Arndt Borkhardt</name>
</author>
<author><name sortKey="Hill, Clare" sort="Hill, Clare" uniqKey="Hill C" first="Clare" last="Hill">Clare Hill</name>
</author>
<author><name sortKey="Gardner Medwin, Janet" sort="Gardner Medwin, Janet" uniqKey="Gardner Medwin J" first="Janet" last="Gardner-Medwin">Janet Gardner-Medwin</name>
</author>
<author><name sortKey="Fischer, Alain" sort="Fischer, Alain" uniqKey="Fischer A" first="Alain" last="Fischer">Alain Fischer</name>
</author>
<author><name sortKey="De Saint Basile, Genevieve" sort="De Saint Basile, Genevieve" uniqKey="De Saint Basile G" first="Geneviève" last="De Saint Basile">Geneviève De Saint Basile</name>
</author>
</analytic>
<series><title level="j" type="main">Blood</title>
<title level="j" type="abbreviated">Blood</title>
<idno type="ISSN">0006-4971</idno>
<imprint><date when="2004">2004</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Blood</title>
<title level="j" type="abbreviated">Blood</title>
<idno type="ISSN">0006-4971</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Affinity</term>
<term>Apoptosis</term>
<term>Autoimmune disease</term>
<term>CINCA syndrome</term>
<term>Familial cold urticaria</term>
<term>Human</term>
<term>Inflammation</term>
<term>Molecular structure</term>
<term>Muckle syndrome</term>
<term>Mutation</term>
<term>Nucleotide</term>
<term>Phagocyte</term>
<term>Signal transduction</term>
<term>Urticaria</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Phagocyte</term>
<term>Inflammation</term>
<term>Transduction signal</term>
<term>Apoptose</term>
<term>Mutation</term>
<term>Maladie autoimmune</term>
<term>Muckle syndrome</term>
<term>Urticaire</term>
<term>Structure moléculaire</term>
<term>Affinité</term>
<term>Nucléotide</term>
<term>Homme</term>
<term>Protéine NALP</term>
<term>Gène CIAS 1</term>
<term>Protéines CATEPILLER</term>
<term>Syndrome CINCA</term>
<term>Urticaire au froid familial</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">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 disorders. These Include chronic infantile neurologic 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 7 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 evidence of genotype/phenotype correlations. A 3-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, suggesting 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.</div>
</front>
</TEI>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0006-4971</s0>
</fA01>
<fA03 i2="1"><s0>Blood</s0>
</fA03>
<fA05><s2>103</s2>
</fA05>
<fA06><s2>7</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>NEVEN (Bénédicte)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>CALLEBAUT (Isabelle)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>PRIEUR (Anne-Marie)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>FELDMANN (Jérome)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>BODEMER (Christine)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>LEPORE (Loredana)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>DERFALVI (Beata)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>BENJAPONPITAK (Suata)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>VESELY (Richard)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>SAUVAIN (Marie Jose)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>OERTLE (Stefan)</s1>
</fA11>
<fA11 i1="12" i2="1"><s1>ALLEN (Roger)</s1>
</fA11>
<fA11 i1="13" i2="1"><s1>MORGAN (Gareth)</s1>
</fA11>
<fA11 i1="14" i2="1"><s1>BORKHARDT (Arndt)</s1>
</fA11>
<fA11 i1="15" i2="1"><s1>HILL (Clare)</s1>
</fA11>
<fA11 i1="16" i2="1"><s1>GARDNER-MEDWIN (Janet)</s1>
</fA11>
<fA11 i1="17" i2="1"><s1>FISCHER (Alain)</s1>
</fA11>
<fA11 i1="18" i2="1"><s1>DE SAINT BASILE (Geneviève)</s1>
</fA11>
<fA14 i1="01"><s1>Unité de Recherche sur le développement normal et pathologique du systeme immunitaire INSERM U429, Unite d'Immuno-hématologie et Rhumatologie Pédiatriques, and Service de Dermatologie, Hôpital Necker-Enfants Malades</s1>
<s2>Paris</s2>
<s3>FRA</s3>
</fA14>
<fA14 i1="02"><s1>Département de Biologie Structurale, CNRS UMR7590, Universités Paris 6 and Paris 7</s1>
<s3>FRA</s3>
</fA14>
<fA14 i1="03"><s1>Department of Pediatrics, IRCCS Burto Garofolo Children's Hospital</s1>
<s2>Trieste</s2>
<s3>ITA</s3>
</fA14>
<fA14 i1="04"><s1>Department of Pediatrics, Semmelweis University of Medicine</s1>
<s2>Budapest</s2>
<s3>HUN</s3>
</fA14>
<fA14 i1="05"><s1>Pediatric Allergy Ramathibodi Hospice</s1>
<s2>Bangkok</s2>
<s3>THA</s3>
</fA14>
<fA14 i1="06"><s1>Faculty Hospital, Pediatric Rheumatology Unit</s1>
<s2>Kosice</s2>
<s3>SVK</s3>
</fA14>
<fA14 i1="07"><s1>Department of Pediatrics, University of Bern (Inselsptal), and Department of Rheumatology and Clinical Immunology/Allergology, University Hospital (Inselspital)</s1>
<s2>Bern</s2>
<s3>CHE</s3>
</fA14>
<fA14 i1="08"><s1>Rheumatology and General Practice, Royal Chidren's Hospital</s1>
<s2>Melbourne</s2>
<s3>AUS</s3>
</fA14>
<fA14 i1="09"><s1>Developmental Medicine (Paediatrics/Immunology), University of Wales</s1>
<s2>Swansea</s2>
<s3>GBR</s3>
</fA14>
<fA14 i1="10"><s1>Institute of Medical Genetics, Institute of Medical Genetics, University Hospital of Wales</s1>
<s2>Cardiff</s2>
<s3>GBR</s3>
</fA14>
<fA14 i1="11"><s1>Department of Pediatric Hematology and Oncology, University of Gieseen</s1>
<s3>DEU</s3>
</fA14>
<fA14 i1="12"><s1>Department of Child Health, Glasgow University</s1>
<s3>GBR</s3>
</fA14>
<fA20><s1>2809-2815</s1>
</fA20>
<fA21><s1>2004</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>3178</s2>
</fA43>
<fA44><s0>A200</s0>
</fA44>
<fA45><s0>45 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>04-0374689</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Blood</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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 disorders. These Include chronic infantile neurologic 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 7 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 evidence of genotype/phenotype correlations. A 3-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, suggesting 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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B07</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Phagocyte</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Phagocyte</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Fagocito</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Inflammation</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Inflammation</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Inflamación</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Transduction signal</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Signal transduction</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Transducción señal</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Apoptose</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Apoptosis</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Apoptosis</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Mutation</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Mutation</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Mutación</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Maladie autoimmune</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Autoimmune disease</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Enfermedad autoinmune</s0>
<s5>06</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Muckle syndrome</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Muckle syndrome</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Muckle síndrome</s0>
<s5>07</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Urticaire</s0>
<s5>08</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Urticaria</s0>
<s5>08</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Urticaria</s0>
<s5>08</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Structure moléculaire</s0>
<s5>09</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Molecular structure</s0>
<s5>09</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Estructura molecular</s0>
<s5>09</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Affinité</s0>
<s5>10</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG"><s0>Affinity</s0>
<s5>10</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Afinidad</s0>
<s5>10</s5>
</fC03>
<fC03 i1="11" i2="X" l="FRE"><s0>Nucléotide</s0>
<s5>11</s5>
</fC03>
<fC03 i1="11" i2="X" l="ENG"><s0>Nucleotide</s0>
<s5>11</s5>
</fC03>
<fC03 i1="11" i2="X" l="SPA"><s0>Nucleótido</s0>
<s5>11</s5>
</fC03>
<fC03 i1="12" i2="X" l="FRE"><s0>Homme</s0>
<s5>17</s5>
</fC03>
<fC03 i1="12" i2="X" l="ENG"><s0>Human</s0>
<s5>17</s5>
</fC03>
<fC03 i1="12" i2="X" l="SPA"><s0>Hombre</s0>
<s5>17</s5>
</fC03>
<fC03 i1="13" i2="X" l="FRE"><s0>Protéine NALP</s0>
<s4>INC</s4>
<s5>86</s5>
</fC03>
<fC03 i1="14" i2="X" l="FRE"><s0>Gène CIAS 1</s0>
<s4>INC</s4>
<s5>88</s5>
</fC03>
<fC03 i1="15" i2="X" l="FRE"><s0>Protéines CATEPILLER</s0>
<s4>INC</s4>
<s5>93</s5>
</fC03>
<fC03 i1="16" i2="X" l="FRE"><s0>Syndrome CINCA</s0>
<s4>CD</s4>
<s5>97</s5>
</fC03>
<fC03 i1="16" i2="X" l="ENG"><s0>CINCA syndrome</s0>
<s4>CD</s4>
<s5>97</s5>
</fC03>
<fC03 i1="17" i2="X" l="FRE"><s0>Urticaire au froid familial</s0>
<s4>CD</s4>
<s5>99</s5>
</fC03>
<fC03 i1="17" i2="X" l="ENG"><s0>Familial cold urticaria</s0>
<s4>CD</s4>
<s5>99</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Peau pathologie</s0>
<s5>53</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Skin disease</s0>
<s5>53</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Piel patología</s0>
<s5>53</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>ORL pathologie</s0>
<s5>54</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>ENT disease</s0>
<s5>54</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>ORL patología</s0>
<s5>54</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Système ostéoarticulaire pathologie</s0>
<s5>55</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Diseases of the osteoarticular system</s0>
<s5>55</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Sistema osteoarticular patología</s0>
<s5>55</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Métabolisme pathologie</s0>
<s5>56</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Metabolic diseases</s0>
<s5>56</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Metabolismo patología</s0>
<s5>56</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>57</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>57</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>57</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Appareil urinaire pathologie</s0>
<s5>58</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Urinary system disease</s0>
<s5>58</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Aparato urinario patología</s0>
<s5>58</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Enzymopathie</s0>
<s5>59</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Enzymopathy</s0>
<s5>59</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Enzimopatía</s0>
<s5>59</s5>
</fC07>
<fN21><s1>215</s1>
</fN21>
<fN44 i1="01"><s1>PSI</s1>
</fN44>
<fN82><s1>PSI</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 04-0374689 LBEI</NO>
<ET>Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU</ET>
<AU>NEVEN (Bénédicte); CALLEBAUT (Isabelle); PRIEUR (Anne-Marie); FELDMANN (Jérome); 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)</AU>
<AF>Unité de Recherche sur le développement normal et pathologique du systeme immunitaire INSERM U429, Unite d'Immuno-hématologie et Rhumatologie Pédiatriques, and Service de Dermatologie, Hôpital Necker-Enfants Malades/Paris/France; Département de Biologie Structurale, CNRS UMR7590, Universités Paris 6 and Paris 7/France; Department of Pediatrics, IRCCS Burto Garofolo Children's Hospital/Trieste/Italie; Department of Pediatrics, Semmelweis University of Medicine/Budapest/Hongrie; Pediatric Allergy Ramathibodi Hospice/Bangkok/Thaïlande; Faculty Hospital, Pediatric Rheumatology Unit/Kosice/Slovaquie; Department of Pediatrics, University of Bern (Inselsptal), and Department of Rheumatology and Clinical Immunology/Allergology, University Hospital (Inselspital)/Bern/Suisse; Rheumatology and General Practice, Royal Chidren's Hospital/Melbourne/Australie; Developmental Medicine (Paediatrics/Immunology), University of Wales/Swansea/Royaume-Uni; Institute of Medical Genetics, Institute of Medical Genetics, University Hospital of Wales/Cardiff/Royaume-Uni; Department of Pediatric Hematology and Oncology, University of Gieseen/Allemagne; Department of Child Health, Glasgow University/Royaume-Uni</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Blood; ISSN 0006-4971; Etats-Unis; Da. 2004; Vol. 103; No. 7; Pp. 2809-2815; Bibl. 45 ref.</SO>
<LA>Anglais</LA>
<EA>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 disorders. These Include chronic infantile neurologic 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 7 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 evidence of genotype/phenotype correlations. A 3-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, suggesting 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.</EA>
<CC>002B07</CC>
<FD>Phagocyte; Inflammation; Transduction signal; Apoptose; Mutation; Maladie autoimmune; Muckle syndrome; Urticaire; Structure moléculaire; Affinité; Nucléotide; Homme; Protéine NALP; Gène CIAS 1; Protéines CATEPILLER; Syndrome CINCA; Urticaire au froid familial</FD>
<FG>Peau pathologie; ORL pathologie; Système ostéoarticulaire pathologie; Métabolisme pathologie; Maladie héréditaire; Appareil urinaire pathologie; Enzymopathie</FG>
<ED>Phagocyte; Inflammation; Signal transduction; Apoptosis; Mutation; Autoimmune disease; Muckle syndrome; Urticaria; Molecular structure; Affinity; Nucleotide; Human; CINCA syndrome; Familial cold urticaria</ED>
<EG>Skin disease; ENT disease; Diseases of the osteoarticular system; Metabolic diseases; Genetic disease; Urinary system disease; Enzymopathy</EG>
<SD>Fagocito; Inflamación; Transducción señal; Apoptosis; Mutación; Enfermedad autoinmune; Muckle síndrome; Urticaria; Estructura molecular; Afinidad; Nucleótido; Hombre</SD>
<LO>INIST-3178</LO>
<ID>04-0374689</ID>
</server>
</inist>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/PascalFrancis/Corpus

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004E18 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Corpus/biblio.hfd -nk 004E18 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    PascalFrancis
   |étape=   Corpus
   |type=    RBID
   |clé=     Pascal:04-0374689
   |texte=   Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU
}}

This area was generated with Dilib version V0.6.33.
Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024

	Serveur d'exploration sur les relations entre la France et l'Australie
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Serveur d'exploration sur les relations entre la France et l'Australie

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

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

Source :

Descripteurs français

English descriptors

Abstract

Notice en format standard (ISO 2709)

Format Inist (serveur)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri