1-5 of 5
Nicolas Goudin
Close
Save search
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles

A heterozygous USB1 variant linked to immunodeficiency

Alice Valagussa, Nidia Moreno-Corona, Chantal Lagresle-Peyrou, Sara Mercurio, Margot Tragin, Nicolas Goudin, Mélanie Parisot, Monica Beltrame, Despina Moshous, Sven Kracker
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250110.
https://doi.org/10.70962/jhi.20250110
Published: 22 October 2025
View article titled, A heterozygous USB1 variant linked to immunodeficiency
Open the PDF for A heterozygous USB1 variant linked to immunodeficiency in another window
Includes: Supplementary data
Journal Articles

Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition

Charles Bayard, Eleonora Segna, Maxime Taverne, Antoine Fraissenon, Quentin Hennocq, Baptiste Periou, Lola Zerbib, Sophia Ladraa, Célia Chapelle, Clément Hoguin, Sophie Kaltenbach, Patrick Villarese, Vahid Asnafi, Christine Broissand, Ivan Nemazanyy, Gwennhael Autret, Nicolas Goudin, Christophe Legendre, François-Jérôme Authier, Thomas Viel, Bertrand Tavitian, Cyril Gitiaux, Sylvie Fraitag, Jean-Paul Duong, Clarisse Delcros, Bernard Sergent, Arnaud Picard, Michael Dussiot, Laurent Guibaud, Roman Khonsari, Guillaume Canaud
Journal: Journal of Experimental Medicine
J Exp Med (2023) 220 (11): e20230926.
https://doi.org/10.1084/jem.20230926
Published: 15 September 2023
View article titled, Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition
Open the PDF for Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition in another window
Includes: Supplementary data
Journal Articles

Severe influenza pneumonitis in children with inherited TLR3 deficiency

Hye Kyung Lim, Sarah X.L. Huang, Jie Chen, Gaspard Kerner, Olivier Gilliaux, Paul Bastard, Kerry Dobbs, Nicholas Hernandez, Nicolas Goudin, Mary L. Hasek, Eduardo Javier García Reino, Fabien G. Lafaille, Lazaro Lorenzo, Priya Luthra, Tatiana Kochetkov, Benedetta Bigio, Soraya Boucherit, Flore Rozenberg, Catherine Vedrinne, Michael D. Keller, Yuval Itan, Adolfo García-Sastre, Marie Celard, Jordan S. Orange, Michael J. Ciancanelli, Isabelle Meyts, Qian Zhang, Laurent Abel, Luigi D. Notarangelo, Hans-Willem Snoeck, Jean-Laurent Casanova, Shen-Ying Zhang
Journal: Journal of Experimental Medicine
J Exp Med (2019) 216 (9): 2038–2056.
https://doi.org/10.1084/jem.20181621
Published: 19 June 2019
View article titled, Severe influenza pneumonitis in children with inherited TLR3 deficiency
Open the PDF for Severe influenza pneumonitis in children with inherited TLR3 deficiency in another window
Includes: Supplementary data
Journal Articles

Kinesin-1 controls mast cell degranulation and anaphylaxis through PI3K-dependent recruitment to the granular Slp3/Rab27b complex

Isabelle Munoz, Luca Danelli, Julien Claver, Nicolas Goudin, Mathieu Kurowska, Iris Karina Madera-Salcedo, Jian-Dong Huang, Alain Fischer, Claudia González-Espinosa, Geneviéve de Saint Basile, Ulrich Blank, Gaël Ménasché
Journal: Journal of Cell Biology
J Cell Biol (2016) 215 (2): 203–216.
https://doi.org/10.1083/jcb.201605073
Published: 24 October 2016
View article titled, Kinesin-1 controls mast cell degranulation and anaphylaxis through PI3K-dependent recruitment to the granular Slp3/Rab27b complex
Open the PDF for Kinesin-1 controls mast cell degranulation and anaphylaxis through PI3K-dependent recruitment to the granular Slp3/Rab27b complex in another window
Includes: Supplementary data
Journal Articles

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

Yun Ling, Sophie Cypowyj, Caner Aytekin, Miguel Galicchio, Yildiz Camcioglu, Serdar Nepesov, Aydan Ikinciogullari, Figen Dogu, Aziz Belkadi, Romain Levy, Mélanie Migaud, Bertrand Boisson, Alexandre Bolze, Yuval Itan, Nicolas Goudin, Julien Cottineau, Capucine Picard, Laurent Abel, Jacinta Bustamante, Jean-Laurent Casanova, Anne Puel
Journal: Journal of Experimental Medicine
J Exp Med (2015) 212 (5): 619–631.
https://doi.org/10.1084/jem.20141065
Published: 27 April 2015
View article titled, Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis
Open the PDF for Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis in another window