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Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation.
Martin, Emmanuel; Minet, Norbert; Boschat, Anne-Claire; Sanquer, Sylvia; Sobrino, Steicy; Lenoir, Christelle; de Villartay, Jean Pierre; Leite-de-Moraes, Maria; Picard, Capucine; Soudais, Claire; Bourne, Tim; Hambleton, Sophie; Hughes, Stephen M; Wynn, Robert F; Briggs, Tracy A; Patel, Smita; Lawrence, Monica G; Fischer, Alain; Arkwright, Peter D; Latour, Sylvain.
Affiliation
  • Martin E; Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, Inserm UMR 1163, Imagine Institute, Paris, France.
  • Minet N; Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, Inserm UMR 1163, Imagine Institute, Paris, France.
  • Boschat AC; University Paris Descartes Sorbonne Paris Cité, Imagine Institute, Paris, France.
  • Sanquer S; University Paris Descartes Sorbonne Paris Cité, Imagine Institute, Paris, France.
  • Sobrino S; Plateforme spectrométrie de masse, Imagine Institute, Paris, France.
  • Lenoir C; Laboratoire de Biochimie Métabolomique et Protéomique, Hôpital Necker Enfants-Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • de Villartay JP; Laboratoire de Biochimie Métabolomique et Protéomique, Hôpital Necker Enfants-Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • Leite-de-Moraes M; Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, Inserm UMR 1163, Imagine Institute, Paris, France.
  • Picard C; University Paris Descartes Sorbonne Paris Cité, Imagine Institute, Paris, France.
  • Soudais C; Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, Inserm UMR 1163, Imagine Institute, Paris, France.
  • Bourne T; University Paris Descartes Sorbonne Paris Cité, Imagine Institute, Paris, France.
  • Hambleton S; Laboratory of Genome Dynamics in the Immune System, Inserm UMR 1163, Imagine Institute, Paris, France.
  • Hughes SM; Inserm UMR S1151 CNRS UMR 8253, Institut Necker Enfants Malades (INEM), Paris, France.
  • Wynn RF; Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, Inserm UMR 1163, Imagine Institute, Paris, France.
  • Briggs TA; University Paris Descartes Sorbonne Paris Cité, Imagine Institute, Paris, France.
  • Patel S; Department of Pediatric Immunology, Hematology and Rheumatology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
  • Lawrence MG; Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, Inserm UMR 1163, Imagine Institute, Paris, France.
  • Fischer A; University Paris Descartes Sorbonne Paris Cité, Imagine Institute, Paris, France.
  • Arkwright PD; Step Pharma, Paris, France.
  • Latour S; Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
JCI Insight ; 5(5)2020 03 12.
Article de En | MEDLINE | ID: mdl-32161190
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Lymphocytes / Différenciation cellulaire / Carbon-nitrogen ligases / Homozygote / Mutation Limites: Humans Langue: En Journal: JCI Insight Année: 2020 Type de document: Article Pays d'affiliation: France
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Lymphocytes / Différenciation cellulaire / Carbon-nitrogen ligases / Homozygote / Mutation Limites: Humans Langue: En Journal: JCI Insight Année: 2020 Type de document: Article Pays d'affiliation: France