Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ER...
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation
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Full title
Author / Creator
Bohlen, Jonathan , Bagarić, Ivan , Vatovec, Taja , Ogishi, Masato , Ahmed, Syed F. , Cederholm, Axel , Buetow, Lori , Sobrino, Steicy , Le Floc’h, Corentin , Arango-Franco, Carlos A. , Seabra, Luis , Michelet, Marine , Barzaghi, Federica , Leardini, Davide , Saettini, Francesco , Vendemini, Francesca , Baccelli, Francesco , Catala, Albert , Gambineri, Eleonora , Veltroni, Marinella , Aguilar de la Red, Yurena , Rice, Gillian I. , Consonni, Filippo , Berteloot, Laureline , Largeaud, Laetitia , Conti, Francesca , Roullion, Cécile , Masson, Cécile , Bessot, Boris , Seeleuthner, Yoann , Le Voyer, Tom , Rinchai, Darawan , Rosain, Jérémie , Neehus, Anna-Lena , Erazo-Borrás, Lucia , Li, Hailun , Janda, Zarah , Cho, En-Jui , Muratore, Edoardo , Soudée, Camille , Lainé, Candice , Delabesse, Eric , Goulvestre, Claire , Ma, Cindy S. , Puel, Anne , Tangye, Stuart G. , André, Isabelle , Bole-Feysot, Christine , Abel, Laurent , Erlacher, Miriam , Zhang, Shen-Ying , Béziat, Vivien , Lagresle-Peyrou, Chantal , Six, Emmanuelle , Pasquet, Marlène , Alsina, Laia , Aiuti, Alessandro , Zhang, Peng , Crow, Yanick J. , Landegren, Nils , Masetti, Riccardo , Huang, Danny T. , Casanova, Jean-Laurent and Bustamante, Jacinta
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
Patients heterozygous for germline CBL loss-of-function (LOF) variants can develop myeloid malignancy, autoinflammation, or both, if some or all of their leukocytes become homozygous for these variants through somatic loss of heterozygosity (LOH) via uniparental isodisomy. We observed an upregulation of the inflammatory gene expression signature in...
Alternative Titles
Full title
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation
Authors, Artists and Contributors
Author / Creator
Bagarić, Ivan
Vatovec, Taja
Ogishi, Masato
Ahmed, Syed F.
Cederholm, Axel
Buetow, Lori
Sobrino, Steicy
Le Floc’h, Corentin
Arango-Franco, Carlos A.
Seabra, Luis
Michelet, Marine
Barzaghi, Federica
Leardini, Davide
Saettini, Francesco
Vendemini, Francesca
Baccelli, Francesco
Catala, Albert
Gambineri, Eleonora
Veltroni, Marinella
Aguilar de la Red, Yurena
Rice, Gillian I.
Consonni, Filippo
Berteloot, Laureline
Largeaud, Laetitia
Conti, Francesca
Roullion, Cécile
Masson, Cécile
Bessot, Boris
Seeleuthner, Yoann
Le Voyer, Tom
Rinchai, Darawan
Rosain, Jérémie
Neehus, Anna-Lena
Erazo-Borrás, Lucia
Li, Hailun
Janda, Zarah
Cho, En-Jui
Muratore, Edoardo
Soudée, Camille
Lainé, Candice
Delabesse, Eric
Goulvestre, Claire
Ma, Cindy S.
Puel, Anne
Tangye, Stuart G.
André, Isabelle
Bole-Feysot, Christine
Abel, Laurent
Erlacher, Miriam
Zhang, Shen-Ying
Béziat, Vivien
Lagresle-Peyrou, Chantal
Six, Emmanuelle
Pasquet, Marlène
Alsina, Laia
Aiuti, Alessandro
Zhang, Peng
Crow, Yanick J.
Landegren, Nils
Masetti, Riccardo
Huang, Danny T.
Casanova, Jean-Laurent
Bustamante, Jacinta
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_swepub_primary_oai_swepub_ki_se_887182
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_swepub_ki_se_887182
Other Identifiers
ISSN
1558-8238,0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI181604
