Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity.

• Jägle S Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
• Heeg M Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Pediatrics, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Berta-Ottenstein-Programme, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
• Grün S Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
• Rensing-Ehl A Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
• Maccari ME Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Pediatrics, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
• Klemann C Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Department of Pediatric Pneumology, Allergy and Neonatology, Hannover Medical School, Hannover, Germany.
• Jones N Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.
• Lehmberg K Division of Pediatric Stem Cell Transplantation and Immunology, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
• Bettoni C Department of Pediatric Pneumology, Allergy and Neonatology, Hannover Medical School, Hannover, Germany.
• Warnatz K Divivion Immunodeficiency (CCI), Department of Rheumatology and Clinical Immunology, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
• Grimbacher B Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; DZIF, German Center for Infection Research, Satellite Center, Freiburg, Germany; Resist - Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Germany; CIBSS - Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany.
• Biebl A Department of Paediatric and Adolescent Medicine, Kepler University Hospital Linz, Linz, Austria.
• Schauer U University Children's Hospital, Ruhr University Bochum, Bochum, Germany.
• Hague R Paediatric Infectious Diseases and Immunology, Royal Hospital for Children, Glasgow, UK.
• Neth O Paediatric Infectious Diseases, Rheumatology and Immunology, Hospital Universitario Virgen del Rocío, Instituto de Bioinvestigacion (IBIS), Sevilla, Spain.
• Mauracher A Division of Immunology, University Children's Hospital Zurich, Children's Research Center (CRC), Zurich, Switzerland.
• Pachlopnik Schmid J Division of Immunology, University Children's Hospital Zurich, Children's Research Center (CRC), Zurich, Switzerland.
• Fabre A Service de Pédiatrie Multidisciplinaire, Hôpital de la Timone, APHM, Marseille, France; Aix Marseille Univ, INSERM, MMG, Marseille, France.
• Kostyuchenko L Center of Pediatric Immunology, Western Ukrainian Specialized Children's Medical Centre, Lviv, Ukraine.
• Führer M Institute for Transfusion Medicine, University of Ulm, Ulm, Germany.
• Lorenz MR Institute for Transfusion Medicine, University of Ulm, Ulm, Germany.
• Schwarz K Institute for Transfusion Medicine, University of Ulm, Ulm, Germany; Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Wuerttemberg, Hessen, Ulm, Germany.
• Rohr J Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Pediatrics, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
• Ehl S Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Pediatrics, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; CIBSS - Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany. Electronic address: stephan.ehl@uniklinik-freiburg.de.

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Autoimmunity

Cell Proliferation

Female

Gain of Function Mutation

Humans

Lymphocytes

Male

Multigene Family

Penetrance

Phosphorylation

STAT3 Transcription Factor

Signal Transduction