Homozygous <i>NLRP1</i> gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis
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- Scott B. Drutman
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065;
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- Filomeen Haerynck
- 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;
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- Franklin L. Zhong
- Institute of Molecular and Cell Biology, A*STAR, 138673 Proteos, Singapore;
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- David Hum
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065;
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- Nicholas J. Hernandez
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065;
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- Serkan Belkaya
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065;
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- Franck Rapaport
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065;
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- Sarah Jill de Jong
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065;
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- David Creytens
- Department of Pathology, Ghent University Hospital, 9000 Ghent, Belgium;
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- Simon J. Tavernier
- 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;
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- Katrien Bonte
- Department of Otorhinolaryngology, Head and Neck Surgery, Craniofacial Team, Gent University Hospital, 9000 Ghent, Belgium;
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- Sofie De Schepper
- Department of Dermatology, Ghent University Hospital, 9000 Ghent, Belgium;
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- Jutte van der Werff ten Bosch
- Department of Pediatrics, Universitair Ziekenhuis Brussel, 1090 Jette, Belgium;
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- Lazaro Lorenzo-Diaz
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France;
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- Andy Wullaert
- Department of Biomedical Molecular Biology, Ghent University, 9000 Ghent, Belgium;
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- Xavier Bossuyt
- Department of Microbiology and Immunology, KU Leuven, 3000 Leuven, Belgium;
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- Gérard Orth
- Department of Virology, Pasteur Institute, 75015 Paris, France;
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- Vincent R. Bonagura
- Center for Immunology and Inflammation, The Feinstein Institutes for Medical Research, Manhasset, NY 11030;
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- Vivien Béziat
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065;
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- Laurent Abel
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065;
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- Emmanuelle Jouanguy
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065;
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- Bruno Reversade
- Institute of Molecular and Cell Biology, A*STAR, 138673 Proteos, Singapore;
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- Jean-Laurent Casanova
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065;
抄録
<jats:title>Significance</jats:title> <jats:p> Recurrent respiratory papillomatosis is a disease caused by the human papillomavirus that leads to growth of warts in the throat. We report 2 brothers with a form of this disease that involves a mutation in the <jats:italic>NLRP1</jats:italic> gene. This study provides a genetic explanation for our patients’ disease and suggests that other people may suffer from the same genetic disease. It also expands our understanding of diseases caused by mutations in <jats:italic>NLRP1</jats:italic> . </jats:p>
収録刊行物
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- Proceedings of the National Academy of Sciences
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Proceedings of the National Academy of Sciences 116 (38), 19055-19063, 2019-09-04
Proceedings of the National Academy of Sciences