A toxic palmitoylation on Cdc42 drives a severe autoinflammatory syndrome

Autor: Laurence Abrami, Olivier Hermine, Sylvie Fraitag, Christine Bodemer, Michael Dussiot, N. Bellon, Olivia Boccara, Tourville A, Rachida Tacine, Asma Smahi, Sandrine Etienne-Manneville, Jérôme Delon, Khirat M, van der Goot Fg, Jacqueline Cherfils, Bekhouche B, Smail Hadj-Rabia, Ravichandran Y, Anne Puel, Stéphane Blanche, Khau-Dancasius A, Mangeney M, Jean-Laurent Casanova

BackgroundAutoinflammatory diseases (AID) result from dysregulation of the first lines of innate immune responses. Recently, development of high throughput genome sequencing technology led to the rapid emergence of important knowledge in the genetic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::377fa4c7a6aa27680ecbd47ea0281b37

A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome.

Autor: Bekhouche B; Institut Imagine, INSERM U1163, CNRS ERL 8254, Université Paris Descartes, Sorbonne Paris-Cité, Laboratoire d'Excellence GR-Ex, Paris, France., Tourville A; Université de Paris, Institut Cochin, INSERM, U1016, CNRS, UMR8104, Paris, France., Ravichandran Y; Cell Polarity, Migration and Cancer Unit, Institut Pasteur, UMR3691 CNRS, Equipe Labellisée Ligue Contre le Cancer, Paris, France; Sorbonne Université, Collège doctoral, F-75005 Paris, France., Tacine R; Université de Paris, Institut Cochin, INSERM, U1016, CNRS, UMR8104, Paris, France., Abrami L; Global Health Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Dussiot M; Institut Imagine, INSERM U1163, CNRS ERL 8254, Université Paris Descartes, Sorbonne Paris-Cité, Laboratoire d'Excellence GR-Ex, Paris, France., Khau-Dancasius A; Institut Imagine, INSERM U1163, CNRS ERL 8254, Université Paris Descartes, Sorbonne Paris-Cité, Laboratoire d'Excellence GR-Ex, Paris, France., Boccara O; Department of Dermatology, Reference Center for Genodermatoses (MAGEC), Necker- Enfants Malades Hospital (AP-HP), Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Khirat M; Université de Paris, Institut Cochin, INSERM, U1016, CNRS, UMR8104, Paris, France., Mangeney M; Université de Paris, Institut Cochin, INSERM, U1016, CNRS, UMR8104, Paris, France., Dingli F; Institut Curie, PSL Research University, Centre de Recherche, Laboratoire de Spectrométrie de Masse Protéomique, Paris, France., Loew D; Institut Curie, PSL Research University, Centre de Recherche, Laboratoire de Spectrométrie de Masse Protéomique, Paris, France., Boëda B; Cell Polarity, Migration and Cancer Unit, Institut Pasteur, UMR3691 CNRS, Equipe Labellisée Ligue Contre le Cancer, Paris, France., Jordan P; Fédération de Génétique, Service de Génétique Moléculaire, Hôpital Necker-Enfants Malades, Paris, France., Molina TJ; Institut Imagine, INSERM U1163, CNRS ERL 8254, Université Paris Descartes, Sorbonne Paris-Cité, Laboratoire d'Excellence GR-Ex, Paris, France; Department of Pathology, Necker Enfants Malades, Université de Paris, Paris, France., Bellon N; Department of Dermatology, Reference Center for Genodermatoses (MAGEC), Necker- Enfants Malades Hospital (AP-HP), Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Fraitag S; Department of Pathology, reference centre MAGEC, Necker-Enfants Malades Hospital, APHP, Paris, France., Hadj-Rabia S; Department of Dermatology, Reference Center for Genodermatoses (MAGEC), Necker- Enfants Malades Hospital (AP-HP), Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Blanche S; Unité d'Immunologie Hématologie Rhumatologie Pédiatrique, Necker-Enfants Malades Hospital (AP-HP5), Paris Descartes-Sorbonne Paris Cité University, Paris, France., Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Descartes University, Imagine Institute, Paris, France., Etienne-Manneville S; Cell Polarity, Migration and Cancer Unit, Institut Pasteur, UMR3691 CNRS, Equipe Labellisée Ligue Contre le Cancer, Paris, France., van der Goot FG; Global Health Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Cherfils J; Laboratoire de Biologie et Pharmacologie Appliquée, CNRS and Ecole Normale Supérieure Paris-Saclay, Cachan, France., Hermine O; Institut Imagine, INSERM U1163, CNRS ERL 8254, Université Paris Descartes, Sorbonne Paris-Cité, Laboratoire d'Excellence GR-Ex, Paris, France; Department of Hematology, Hôpital Necker AP-HP, Paris, France., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Descartes University, Imagine Institute, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, Howard Hughes Medical Institute, New York, NY; Department of Pediatric Immunology and Hematology, Necker-Enfants Malades Hospital (AP-HP), Paris Descartes-Sorbonne Paris Cité University, Paris, France., Bodemer C; Department of Dermatology, Reference Center for Genodermatoses (MAGEC), Necker- Enfants Malades Hospital (AP-HP), Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France. Electronic address: christine.bodemer@aphp.fr., Smahi A; Institut Imagine, INSERM U1163, CNRS ERL 8254, Université Paris Descartes, Sorbonne Paris-Cité, Laboratoire d'Excellence GR-Ex, Paris, France. Electronic address: asma.smahi@inserm.fr., Delon J; Université de Paris, Institut Cochin, INSERM, U1016, CNRS, UMR8104, Paris, France. Electronic address: jerome.delon@inserm.fr.

Publikováno v: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2020 Nov; Vol. 146 (5), pp. 1201-1204.e8. Date of Electronic Publication: 2020 Apr 10.

Serum CDC42 reflects the exacerbation risk and severity, Th1/2 cell imbalance and inflammation in asthmatic children.

Autor: Yang, Ning, Gao, Jielin, Han, Yanjun, Zhang, Lili

Publikováno v: Biomarkers in Medicine; 2023, Vol. 17 Issue 8, p407-415, 9p

Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.

Autor: Tangye, Stuart G., Al-Herz, Waleed, Bousfiha, Aziz, Cunningham-Rundles, Charlotte, Franco, Jose Luis, Holland, Steven M., Klein, Christoph, Morio, Tomohiro, Oksenhendler, Eric, Picard, Capucine, Puel, Anne, Puck, Jennifer, Seppänen, Mikko R. J., Somech, Raz, Su, Helen C., Sullivan, Kathleen E., Torgerson, Troy R., Meyts, Isabelle

Publikováno v: Journal of Clinical Immunology; Oct2022, Vol. 42 Issue 7, p1473-1507, 35p

Biological and clinical roles of IL-18 in inflammatory diseases.

Autor: Landy E; Program in Microbiology and Immunology, University of Pittsburgh, Pittsburgh, PA, USA., Carol H; Division of Rheumatology and Immune Dysregulation Program, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Institute for Immunology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Ring A; Translational Science and Therapeutics, Fred Hutchinson Cancer Center, Seattle, WA, USA., Canna S; Program in Microbiology and Immunology, University of Pittsburgh, Pittsburgh, PA, USA. cannas@chop.edu.; Division of Rheumatology and Immune Dysregulation Program, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. cannas@chop.edu.; Institute for Immunology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. cannas@chop.edu.

Publikováno v: Nature reviews. Rheumatology [Nat Rev Rheumatol] 2024 Jan; Vol. 20 (1), pp. 33-47. Date of Electronic Publication: 2023 Dec 11.