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Isabelle André
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Journal Articles

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency

Elena Blanco, Carme Camps, Sameer Bahal, Mohit D. Kerai, Matteo P. Ferla, Adam M. Rochussen, Adam E. Handel, Zainab M. Golwala, Helena Spiridou Goncalves, Susanne Kricke, Fabian Klein, Fang Zhang, Federica Zinghirino, Grace Evans, Thomas M. Keane, Sabrina Lizot, Maaike A.A. Kusters, Mildred A. Iro, Sanjay V. Patel, Emma C. Morris, Siobhan O. Burns, Ruth Radcliffe, Pradeep Vasudevan, Arthur Price, Olivia Gillham, Gabriel E. Valdebenito, Grant S. Stewart, Austen Worth, Stuart P. Adams, Michael Duchen, Isabelle André, David J. Adams, Giorgia Santili, Kimberly C. Gilmour, Georg A. Holländer, E. Graham Davies, Jenny C. Taylor, Gillian M. Griffiths, Adrian J. Thrasher, Fatima Dhalla, Alexandra Y. Kreins
Journal: Journal of Experimental Medicine
J Exp Med (2024) 222 (1): e20220979.
https://doi.org/10.1084/jem.20220979
Published: 19 November 2024
View article titled, Dominant negative variants in <em>ITPR3</em> impair T cell Ca<sup>2+</sup> dynamics causing combined immunodeficiency
Open the PDF for Dominant negative variants in <em>ITPR3</em> impair T cell Ca<sup>2+</sup> dynamics causing combined immunodeficiency in another window
Includes: Supplementary data
Journal Articles

A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency

In Special Collection:
B Cell Biology in Health and Diseases
Romane Thouenon, Loïc Chentout, Nidia Moreno-Corona, Lucie Poggi, Emilia Puig Lombardi, Benedicte Hoareau, Yohann Schmitt, Chantal Lagresle-Peyrou, Jacinta Bustamante, Isabelle André, Marina Cavazzana, Anne Durandy, Jean-Laurent Casanova, Lionel Galicier, Jehane Fadlallah, Alain Fischer, Sven Kracker
Journal: Journal of Experimental Medicine
J Exp Med (2023) 220 (6): e20221292.
https://doi.org/10.1084/jem.20221292
Published: 14 March 2023
View article titled, A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency
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Includes: Supplementary data
Journal Articles

RUNX1-dependent RAG1 deposition instigates human TCR-δ locus rearrangement

Agata Cieslak, Sandrine Le Noir, Amélie Trinquand, Ludovic Lhermitte, Don-Marc Franchini, Patrick Villarese, Stéphanie Gon, Jonathan Bond, Mathieu Simonin, Laurent Vanhille, Christian Reimann, Els Verhoeyen, Jerome Larghero, Emmanuelle Six, Salvatore Spicuglia, Isabelle André-Schmutz, Anton Langerak, Bertrand Nadel, Elizabeth Macintyre, Dominique Payet-Bornet, Vahid Asnafi
Journal: Journal of Experimental Medicine
J Exp Med (2014) 211 (13): 2681.
https://doi.org/10.1084/jem.2013258511142014c
Published: 24 November 2014
View article titled, RUNX1-dependent RAG1 deposition instigates human TCR-δ locus rearrangement
Open the PDF for RUNX1-dependent RAG1 deposition instigates human TCR-δ locus rearrangement in another window
Journal Articles

RUNX1-dependent RAG1 deposition instigates human TCR-δ locus rearrangement

Agata Cieslak, Sandrine Le Noir, Amélie Trinquand, Ludovic Lhermitte, Don-Marc Franchini, Patrick Villarese, Stéphanie Gon, Jonathan Bond, Mathieu Simonin, Laurent Vanhille, Christian Reimann, Els Verhoeyen, Jerome Larghero, Emmanuelle Six, Salvatore Spicuglia, Isabelle André-Schmutz, Anton Langerak, Bertrand Nadel, Elizabeth Macintyre, Dominique Payet-Bornet, Vahid Asnafi
Journal: Journal of Experimental Medicine
J Exp Med (2014) 211 (9): 1821–1832.
https://doi.org/10.1084/jem.20132585
Published: 18 August 2014
View article titled, RUNX1-dependent RAG1 deposition instigates human TCR-δ locus rearrangement
Open the PDF for RUNX1-dependent RAG1 deposition instigates human TCR-δ locus rearrangement in another window
Includes: Supplementary data