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A Novel Complete Autosomal-Recessive STAT1 LOF Variant Causes Immunodeficiency with Hemophagocytic Lymphohistiocytosis-Like Hyperinflammation.
Boehmer, Daniel F R; Koehler, Lisa M; Magg, Thomas; Metzger, Philipp; Rohlfs, Meino; Ahlfeld, Julia; Rack-Hoch, Anita; Reiter, Karl; Albert, Michael H; Endres, Stefan; Rothenfusser, Simon; Klein, Christoph; Koenig, Lars M; Hauck, Fabian.
Afiliación
  • Boehmer DFR; Center of Integrated Protein Science Munich (CIPS-M) and Division of Clinical Pharmacology, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany; Department of Medicine II, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Koehler LM; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Magg T; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Metzger P; Center of Integrated Protein Science Munich (CIPS-M) and Division of Clinical Pharmacology, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Rohlfs M; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Ahlfeld J; Center of Integrated Protein Science Munich (CIPS-M) and Division of Clinical Pharmacology, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Rack-Hoch A; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Reiter K; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Albert MH; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Endres S; Center of Integrated Protein Science Munich (CIPS-M) and Division of Clinical Pharmacology, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Rothenfusser S; Center of Integrated Protein Science Munich (CIPS-M) and Division of Clinical Pharmacology, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Klein C; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany; German Centre for Infection Research (DZIF), Munich, Germany.
  • Koenig LM; Center of Integrated Protein Science Munich (CIPS-M) and Division of Clinical Pharmacology, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Hauck F; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany; German Centre for Infection Research (DZIF), Munich, Germany. Electronic address: fabian.hauck@med.uni-muenchen.de.
J Allergy Clin Immunol Pract ; 8(9): 3102-3111, 2020 10.
Article en En | MEDLINE | ID: mdl-32603902
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Virosis / Trasplante de Células Madre Hematopoyéticas / Linfohistiocitosis Hemofagocítica / Síndromes de Inmunodeficiencia Tipo de estudio: Diagnostic_studies / Etiology_studies / Screening_studies Límite: Child / Humans Idioma: En Revista: J Allergy Clin Immunol Pract Año: 2020 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Virosis / Trasplante de Células Madre Hematopoyéticas / Linfohistiocitosis Hemofagocítica / Síndromes de Inmunodeficiencia Tipo de estudio: Diagnostic_studies / Etiology_studies / Screening_studies Límite: Child / Humans Idioma: En Revista: J Allergy Clin Immunol Pract Año: 2020 Tipo del documento: Article País de afiliación: Alemania