Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.

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Bibliographic Details
Title: Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.
Authors: Drutman SB; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065., Haerynck F; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, 9000 Ghent, Belgium., Zhong FL; Institute of Molecular and Cell Biology, A*STAR, 138673 Proteos, Singapore.; Laboratory of Human Embryology and Genetics, Institute of Medical Biology, A*STAR, 138648 Immunos, Singapore.; Skin Research Institute of Singapore, 138648 Immunos, Singapore.; Lee Kong Chian School of Medicine, Nanyang Technological University, 636921 Singapore., Hum D; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065., Hernandez NJ; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065., Belkaya S; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065., Rapaport F; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065., de Jong SJ; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065., Creytens D; Department of Pathology, Ghent University Hospital, 9000 Ghent, Belgium.; Cancer Research Institute Ghent, Ghent University, 9000 Ghent, Belgium., Tavernier SJ; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, 9000 Ghent, Belgium.; Center for Inflammation Research, Unit of Molecular Signal Transduction in Inflammation, Flanders Institute for Biotechnology, 9052 Ghent, Belgium.; Department of Biomedical Molecular Biology, Ghent University, 9000 Ghent, Belgium., Bonte K; Department of Otorhinolaryngology, Head and Neck Surgery, Craniofacial Team, Gent University Hospital, 9000 Ghent, Belgium., De Schepper S; Department of Dermatology, Ghent University Hospital, 9000 Ghent, Belgium., van der Werff Ten Bosch J; Department of Pediatrics, Universitair Ziekenhuis Brussel, 1090 Jette, Belgium., Lorenzo-Diaz L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75006 Paris, France., Wullaert A; Department of Biomedical Molecular Biology, Ghent University, 9000 Ghent, Belgium.; Department of Internal Medicine and Pediatrics, Ghent University, 9000 Ghent, Belgium.; Center for Inflammation Research, Flanders Institute for Biotechnology, 9052 Ghent, Belgium., Bossuyt X; Department of Microbiology and Immunology, KU Leuven, 3000 Leuven, Belgium.; Department of Laboratory Medicine, University Hospitals Leuven, 3000 Leuven, Belgium., Orth G; Department of Virology, Pasteur Institute, 75015 Paris, France., Bonagura VR; Center for Immunology and Inflammation, The Feinstein Institutes for Medical Research, Manhasset, NY 11030.; Division of Allergy and Immunology, Department of Pediatrics, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Great Neck, NY 11549., Béziat V; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75006 Paris, France., Abel L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75006 Paris, France., Jouanguy E; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75006 Paris, France., Reversade B; Institute of Molecular and Cell Biology, A*STAR, 138673 Proteos, Singapore.; Laboratory of Human Embryology and Genetics, Institute of Medical Biology, A*STAR, 138648 Immunos, Singapore.; Medical Genetics Department, Koç University School of Medicine, 34450 Istanbul, Turkey.; Reproductive Biology Laboratory, Amsterdam UMC Netherlands, 1105 AZ Amsterdam, The Netherlands., Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065; casanova@rockefeller.edu.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75006 Paris, France.; Pediatric Immunology-Hematology Unit, Necker Hospital for Sick Children, 75015 Paris, France.; HHMI, The Rockefeller University, New York, NY 10065.
Source: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2019 Sep 17; Vol. 116 (38), pp. 19055-19063. Date of Electronic Publication: 2019 Sep 04.
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1091-6490
DOI:10.1073/pnas.1906184116