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Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation.
Shahin, Tala; Mayr, Daniel; Shoeb, Mohamed R; Kuehn, Hye Sun; Hoeger, Birgit; Giuliani, Sarah; Gawriyski, Lisa M; Petronczki, Özlem Yüce; Hadjadj, Jérôme; Bal, Sevgi Köstel; Zoghi, Samaneh; Haimel, Matthias; Jimenez Heredia, Raul; Boutboul, David; Triebwasser, Michael P; Rialland-Battisti, Fanny; Costedoat Chalumeau, Nathalie; Quartier, Pierre; Tangye, Stuart G; Fleisher, Thomas A; Rezaei, Nima; Romberg, Neil; Latour, Sylvain; Varjosalo, Markku; Halbritter, Florian; Rieux-Laucat, Frédéric; Castanon, Irinka; Rosenzweig, Sergio D; Boztug, Kaan.
Afiliación
  • Shahin T; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Mayr D; St. Anna Children's Cancer Research Institute, Vienna, Austria.
  • Shoeb MR; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Kuehn HS; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
  • Hoeger B; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Giuliani S; St. Anna Children's Cancer Research Institute, Vienna, Austria.
  • Gawriyski LM; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Petronczki ÖY; St. Anna Children's Cancer Research Institute, Vienna, Austria.
  • Hadjadj J; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD.
  • Bal SK; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Zoghi S; St. Anna Children's Cancer Research Institute, Vienna, Austria.
  • Haimel M; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Jimenez Heredia R; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Boutboul D; St. Anna Children's Cancer Research Institute, Vienna, Austria.
  • Triebwasser MP; Proteomics Unit, Institute of Biotechnology, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.
  • Rialland-Battisti F; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Costedoat Chalumeau N; St. Anna Children's Cancer Research Institute, Vienna, Austria.
  • Quartier P; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Tangye SG; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM Unité Mixte de Recherche (UMR) 1163, Institut Imagine, Université de Paris, Paris, France.
  • Fleisher TA; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Rezaei N; St. Anna Children's Cancer Research Institute, Vienna, Austria.
  • Romberg N; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Latour S; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Varjosalo M; St. Anna Children's Cancer Research Institute, Vienna, Austria.
  • Halbritter F; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Rieux-Laucat F; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Castanon I; Network of Immunity in Infection, Malignancy and Autoimmunity, Universal Scientific Education and Research Network, Tehran, Iran.
  • Rosenzweig SD; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Boztug K; St. Anna Children's Cancer Research Institute, Vienna, Austria.
Blood Adv ; 6(7): 2444-2451, 2022 04 12.
Article en En | MEDLINE | ID: mdl-34920454
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación de Línea Germinal / Proteómica Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Blood Adv Año: 2022 Tipo del documento: Article País de afiliación: Austria
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación de Línea Germinal / Proteómica Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Blood Adv Año: 2022 Tipo del documento: Article País de afiliación: Austria