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Malaises à répétitions: pensez à la tryptase

Autor: Kennel, C., Gimenez, L., Chandesris, MO., Liozon, E., Vidal-Cathala, E., Palat, S.

Publikováno v: In La Revue de médecine interne 2011 32 Supplement 1:S176-S177

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A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance.

Autor: Khourieh J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75015 Paris, France., Rao G; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia., Habib T; Research Branch, Sidra Medicine, Qatar Foundation, Doha, Qatar., Avery DT; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia., Lefèvre-Utile A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75015 Paris, France., Chandesris MO; Imagine Institute, Paris Descartes University, 75015 Paris, France.; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP), 75015 Paris, France., Belkadi A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75015 Paris, France., Chrabieh M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75015 Paris, France., Alwaseem H; Proteomic Center, The Rockefeller University, New York, NY 10065., Grandin V; Study Center for Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France., Sarrot-Reynauld F; Internal Medicine Unit, Grenoble Hospital, 38043 Grenoble, France., Sénéchal A; Pneumology Unit, Louis Pradel Hospital, 69500 Bron, France., Lortholary O; Imagine Institute, Paris Descartes University, 75015 Paris, France.; Infectious Diseases Unit, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.; Molecular Mycology Unit, National Reference Center for Invasive Fungal Infections, CNRS UMR 2000, Pasteur Institute, 75015 Paris, France., Kong XF; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065., Boisson-Dupuis S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75015 Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065., Picard C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75015 Paris, France.; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP), 75015 Paris, France.; Study Center for Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France., Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75015 Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065., Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75015 Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065., Zhang Q; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065., Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75015 Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065., Molina H; Proteomic Center, The Rockefeller University, New York, NY 10065., Marr N; Research Branch, Sidra Medicine, Qatar Foundation, Doha, Qatar.; College of Health & Life Sciences, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar., Tangye SG; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.; St Vincent's Clinical School, University of New South Wales, Sydney, NSW 2010, Australia., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France; casanova@rockefeller.edu bebo283@rockefeller.edu.; Imagine Institute, Paris Descartes University, 75015 Paris, France.; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP), 75015 Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065.; Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065., Boisson B; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France; casanova@rockefeller.edu bebo283@rockefeller.edu.; Imagine Institute, Paris Descartes University, 75015 Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2019 Aug 13; Vol. 116 (33), pp. 16463-16472. Date of Electronic Publication: 2019 Jul 25.