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Journal Articles

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

Romain Lévy, Florian Gothe, Mana Momenilandi, Thomas Magg, Marie Materna, Philipp Peters, Johannes Raedler, Quentin Philippot, Anita Lena Rack-Hoch, David Langlais, Mathieu Bourgey, Anna-Lisa Lanz, Masato Ogishi, Jérémie Rosain, Emmanuel Martin, Sylvain Latour, Natasha Vladikine, Marco Distefano, Taushif Khan, Franck Rapaport, Marian S. Schulz, Ursula Holzer, Anders Fasth, Georgios Sogkas, Carsten Speckmann, Arianna Troilo, Venetia Bigley, Anna Roppelt, Yael Dinur-Schejter, Ori Toker, Karen Helene Bronken Martinsen, Roya Sherkat, Ido Somekh, Raz Somech, Dror S. Shouval, Jörn-Sven Kühl, Winnie Ip, Elizabeth M. McDermott, Lucy Cliffe, Ahmet Ozen, Safa Baris, Hemalatha G. Rangarajan, Emmanuelle Jouanguy, Anne Puel, Jacinta Bustamante, Marie-Alexandra Alyanakian, Mathieu Fusaro, Yi Wang, Xiao-Fei Kong, Aurélie Cobat, David Boutboul, Martin Castelle, Claire Aguilar, Olivier Hermine, Morgane Cheminant, Felipe Suarez, Alisan Yildiran, Aziz Bousfiha, Hamoud Al-Mousa, Fahad Alsohime, Deniz Cagdas, Roshini S. Abraham, Alan P. Knutsen, Borre Fevang, Sagar Bhattad, Ayca Kiykim, Baran Erman, Tugba Arikoglu, Ekrem Unal, Ashish Kumar, Christoph B. Geier, Ulrich Baumann, Bénédicte Neven, CARMIL2 Consortium, Meino Rohlfs, Christoph Walz, Laurent Abel, Bernard Malissen, Nico Marr, Christoph Klein, Jean-Laurent Casanova, Fabian Hauck, Vivien Béziat

J Exp Med (2022) 220 (2): e20220275.

DOI: https://doi.org/10.1084/jem.20220275

Published: 14 December 2022

View article titled, Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

Includes: Supplementary data

Journal Articles

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis

J Exp Med (2022) 220 (1): e20220484.

DOI: https://doi.org/10.1084/jem.20220484

Published: 03 November 2022

View article titled, Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis

Includes: Supplementary data

Journal Articles

Inherited TNFSF9 deficiency causes broad Epstein–Barr virus infection with EBV⁺ smooth muscle tumors

In Special Collection:

Mechanisms and Models of Cancer 2022 Update

Benjamin Fournier, Akihiro Hoshino, Julie Bruneau, Camille Bachelet, Mathieu Fusaro, Roman Klifa, Romain Lévy, Christelle Lenoir, Claire Soudais, Capucine Picard, Stéphane Blanche, Martin Castelle, Despina Moshous, Thierry Molina, Anne-Sophie Defachelles, Bénédicte Neven, Sylvain Latour

J Exp Med (2022) 219 (7): e20211682.

DOI: https://doi.org/10.1084/jem.20211682

Published: 03 June 2022

View article titled, Inherited TNFSF9 deficiency causes broad Epstein–Barr virus infection with EBV<sup>+</sup> smooth muscle tumors

Includes: Supplementary data

Journal Articles

A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

In Special Collection:

JEM Clinical Immunology Collection 2022

Paul Bastard, Kuang-Chih Hsiao, Qian Zhang, Jeremy Choin, Emma Best, Jie Chen, Adrian Gervais, Lucy Bizien, Marie Materna, Christine Harmant, Maguelonne Roux, Nicola L. Hawley, Daniel E. Weeks, Stephen T. McGarvey, Karla Sandoval, Carmina Barberena-Jonas, Consuelo D. Quinto-Cortés, Erika Hagelberg, Alexander J. Mentzer, Kathryn Robson, Boubacar Coulibaly, Yoann Seeleuthner, Benedetta Bigio, Zhi Li, Gilles Uzé, Sandra Pellegrini, Lazaro Lorenzo, Zineb Sbihi, Sylvain Latour, Marianne Besnard, Tiphaine Adam de Beaumais, Evelyne Jacqz Aigrain, Vivien Béziat, Ranjan Deka, Litara Esera Tulifau, Satupa‘itea Viali, Muagututi‘a Sefuiva Reupena, Take Naseri, Peter McNaughton, Vanessa Sarkozy, Jane Peake, Annaliesse Blincoe, Sarah Primhak, Simon Stables, Kate Gibson, See-Tarn Woon, Kylie Marie Drake, Adrian V.S. Hill, Cheng-Yee Chan, Richard King, Rohan Ameratunga, Iotefa Teiti, Maite Aubry, Van-Mai Cao-Lormeau, Stuart G. Tangye, Shen-Ying Zhang, Emmanuelle Jouanguy, Paul Gray, Laurent Abel, Andrés Moreno-Estrada, Ryan L. Minster, Lluis Quintana-Murci, Andrew C. Wood, Jean-Laurent Casanova

J Exp Med (2022) 219 (6): e20220028.

DOI: https://doi.org/10.1084/jem.20220028

Published: 20 April 2022

View article titled, A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

Includes: Supplementary data

Journal Articles

Rapid identification and characterization of infected cells in blood during chronic active Epstein-Barr virus infection

In Special Collection:

2020 Clinical Collection on Viral Infections

J Exp Med (2020) 217 (11): e20192262.

DOI: https://doi.org/10.1084/jem.20192262

Published: 18 August 2020

View article titled, Rapid identification and characterization of infected cells in blood during chronic active Epstein-Barr virus infection

Includes: Supplementary data

Journal Articles

Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells

Rémy Rodriguez, Benjamin Fournier, Debora Jorge Cordeiro, Sarah Winter, Kazushi Izawa, Emmanuel Martin, David Boutboul, Christelle Lenoir, Sylvie Fraitag, Sven Kracker, Tania H. Watts, Capucine Picard, Julie Bruneau, Isabelle Callebaut, Alain Fischer, Bénédicte Neven, Sylvain Latour

J Exp Med (2019) 216 (12): 2800–2818.

DOI: https://doi.org/10.1084/jem.20190678

Published: 19 September 2019

View article titled, Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells

Includes: Supplementary data

Journal Articles

Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection

In Special Collection:

Monogenic Auto-Inflammation and Auto-Immunity in Humans 2018

Kazushi Izawa, Emmanuel Martin, Claire Soudais, Julie Bruneau, David Boutboul, Rémy Rodriguez, Christelle Lenoir, Andrew D. Hislop, Caroline Besson, Fabien Touzot, Capucine Picard, Isabelle Callebaut, Jean-Pierre de Villartay, Despina Moshous, Alain Fischer, Sylvain Latour

J Exp Med (2016) 214 (1): 73–89.

DOI: https://doi.org/10.1084/jem.20160784

Published: 23 December 2016

View article titled, Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection

Journal Articles

EAT-2, a SAP-like adaptor, controls NK cell activation through phospholipase Cγ, Ca⁺⁺, and Erk, leading to granule polarization

Luis-Alberto Pérez-Quintero, Romain Roncagalli, Huaijian Guo, Sylvain Latour, Dominique Davidson, André Veillette

J Exp Med (2014) 211 (4): 727–742.

DOI: https://doi.org/10.1084/jem.20132038

Published: 31 March 2014

View article titled, EAT-2, a SAP-like adaptor, controls NK cell activation through phospholipase Cγ, Ca<sup>++</sup>, and Erk, leading to granule polarization

Journal Articles

Regulation of natural cytotoxicity by the adaptor SAP and the Src-related kinase Fyn

Coralie Bloch-Queyrat, Marie-Claude Fondanèche, Riyan Chen, Luo Yin, Francis Relouzat, André Veillette, Alain Fischer, Sylvain Latour

J Exp Med (2005) 202 (1): 181–192.

DOI: https://doi.org/10.1084/jem.20050449

Published: 05 July 2005

View article titled, Regulation of natural cytotoxicity by the adaptor SAP and the Src-related kinase Fyn

Includes: Supplementary data

Journal Articles

Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product

Benoit Pasquier, Luo Yin, Marie-Claude Fondanèche, Francis Relouzat, Coralie Bloch-Queyrat, Nathalie Lambert, Alain Fischer, Geneviève de Saint-Basile, Sylvain Latour

J Exp Med (2005) 201 (5): 695–701.

DOI: https://doi.org/10.1084/jem.20042432

Published: 28 February 2005

View article titled, Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product

Journal Articles

Clnk, a Novel Slp-76–Related Adaptor Molecule Expressed in Cytokine-Stimulated Hemopoietic Cells

Ming Yu Cao, Dominique Davidson, Jie Yu, Sylvain Latour, André Veillette

J Exp Med (1999) 190 (10): 1527–1534.

DOI: https://doi.org/10.1084/jem.190.10.1527

Published: 15 November 1999

View article titled, Clnk, a Novel Slp-76–Related Adaptor Molecule Expressed in Cytokine-Stimulated Hemopoietic Cells

NARROW

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis

Inherited TNFSF9 deficiency causes broad Epstein–Barr virus infection with EBV⁺ smooth muscle tumors

A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

Rapid identification and characterization of infected cells in blood during chronic active Epstein-Barr virus infection

Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells

Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection

EAT-2, a SAP-like adaptor, controls NK cell activation through phospholipase Cγ, Ca⁺⁺, and Erk, leading to granule polarization

Regulation of natural cytotoxicity by the adaptor SAP and the Src-related kinase Fyn

Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product

Clnk, a Novel Slp-76–Related Adaptor Molecule Expressed in Cytokine-Stimulated Hemopoietic Cells

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