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Kimberly C. Gilmour
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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

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1

In Special Collection:
Monogenic Auto-Inflammation and Auto-Immunity in Humans 2018 , Regulation and Dysregulation of Innate Immunity in Disease
Ariane S.I. Standing, Dessislava Malinova, Ying Hong, Julien Record, Dale Moulding, Michael P. Blundell, Karolin Nowak, Hannah Jones, Ebun Omoyinmi, Kimberly C. Gilmour, Alan Medlar, Horia Stanescu, Robert Kleta, Glenn Anderson, Sira Nanthapisal, Sonia Melo Gomes, Nigel Klein, Despina Eleftheriou, Adrian J. Thrasher, Paul A. Brogan
Journal: Journal of Experimental Medicine
J Exp Med (2016) 214 (1): 59–71.
https://doi.org/10.1084/jem.20161228
Published: 19 December 2016
View article titled, Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene <em>WDR1 </em>
Open the PDF for Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene <em>WDR1 </em> in another window
Includes: Supplementary data