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

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 ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency

Includes: Supplementary data

Journal Articles

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

In Special Collection:

2019: The Year in Experimental Medicine

J Exp Med (2019) 216 (9): 1986–1998.

https://doi.org/10.1084/jem.20190344

Published: 24 June 2019

View article titled, Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

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

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 WDR1

Includes: Supplementary data

Journal Articles

Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome

Nikita S. Kolhatkar, Archana Brahmandam, Christopher D. Thouvenel, Shirly Becker-Herman, Holly M. Jacobs, Marc A. Schwartz, Eric J. Allenspach, Socheath Khim, Anil K. Panigrahi, Eline T. Luning Prak, Adrian J. Thrasher, Luigi D. Notarangelo, Fabio Candotti, Troy R. Torgerson, Ignacio Sanz, David J. Rawlings

J Exp Med (2015) 212 (10): 1663–1677.

https://doi.org/10.1084/jem.20150585

Published: 14 September 2015

View article titled, Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome

Includes: Supplementary data

Journal Articles

Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes

Lisa S. Westerberg, Parool Meelu, Marisa Baptista, Michelle A. Eston, David A. Adamovich, Vinicius Cotta-de-Almeida, Brian Seed, Michael K. Rosen, Peter Vandenberghe, Adrian J. Thrasher, Christoph Klein, Frederick W. Alt, Scott B. Snapper

J Exp Med (2010) 207 (6): 1145–1152.

https://doi.org/10.1084/jem.20091245

Published: 31 May 2010

View article titled, Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes

Includes: Supplementary data

Journal Articles

The Wiskott-Aldrich syndrome protein is required for iNKT cell maturation and function

Michela Locci, Elena Draghici, Francesco Marangoni, Marita Bosticardo, Marco Catucci, Alessandro Aiuti, Caterina Cancrini, Laszlo Marodi, Teresa Espanol, Robbert G.M. Bredius, Adrian J. Thrasher, Ansgar Schulz, Jiri Litzman, Maria Grazia Roncarolo, Giulia Casorati, Paolo Dellabona, Anna Villa

J Exp Med (2009) 206 (4): 735–742.

https://doi.org/10.1084/jem.20081773

Published: 23 March 2009

View article titled, The Wiskott-Aldrich syndrome protein is required for iNKT cell maturation and function

Includes: Supplementary data

Journal Articles

Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia

Dale A. Moulding, Michael P. Blundell, David G. Spiller, Michael R.H. White, Giles O. Cory, Yolanda Calle, Helena Kempski, Jo Sinclair, Phil J. Ancliff, Christine Kinnon, Gareth E. Jones, Adrian J. Thrasher

J Exp Med (2007) 204 (9): 2213–2224.

https://doi.org/10.1084/jem.20062324

Published: 27 August 2007

View article titled, Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia

Includes: Supplementary data

NARROW

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

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

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

Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome

Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes

The Wiskott-Aldrich syndrome protein is required for iNKT cell maturation and function

Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia

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

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

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

Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome

Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes

The Wiskott-Aldrich syndrome protein is required for iNKT cell maturation and function

Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia

Email alerts

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