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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

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Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination

Aurélien Sokal, Paul Bastard, Pascal Chappert, Giovanna Barba-Spaeth, Slim Fourati, Alexis Vanderberghe, Pauline Lagouge-Roussey, Isabelle Meyts, Adrian Gervais, Magali Bouvier-Alias, Imane Azzaoui, Ignacio Fernández, Andréa de la Selle, Qian Zhang, Lucy Bizien, Isabelle Pellier, Agnès Linglart, Anya Rothenbuhler, Estelle Marcoux, Raphael Anxionnat, Nathalie Cheikh, Juliane Léger, Blanca Amador-Borrero, Fanny Fouyssac, Vanessa Menut, Jean-Christophe Goffard, Caroline Storey, Caroline Demily, Coralie Mallebranche, Jesus Troya, Aurora Pujol, Marie Zins, Pierre Tiberghien, Paul E. Gray, Peter McNaughton, Anna Sullivan, Jane Peake, Romain Levy, Laetitia Languille, Carlos Rodiguez-Gallego, Bertrand Boisson, Sébastien Gallien, Bénédicte Neven, Marc Michel, Bertrand Godeau, Laurent Abel, Felix A. Rey, Jean-Claude Weill, Claude-Agnès Reynaud, Stuart G. Tangye, Jean-Laurent Casanova, Matthieu Mahévas

J Exp Med (2022) 220 (1): e20220258.

DOI: https://doi.org/10.1084/jem.20220258

Published: 07 November 2022

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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

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Impaired IL-23–dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency

Masato Ogishi, Andrés Augusto Arias, Rui Yang, Ji Eun Han, Peng Zhang, Darawan Rinchai, Joshua Halpern, Jeanette Mulwa, Narelle Keating, Maya Chrabieh, Candice Lainé, Yoann Seeleuthner, Noé Ramírez-Alejo, Nioosha Nekooie-Marnany, Andrea Guennoun, Ingrid Muller-Fleckenstein, Bernhard Fleckenstein, Sara S. Kilic, Yoshiyuki Minegishi, Stephan Ehl, Petra Kaiser-Labusch, Yasemin Kendir-Demirkol, Flore Rozenberg, Abderrahmane Errami, Shen-Ying Zhang, Qian Zhang, Jonathan Bohlen, Quentin Philippot, Anne Puel, Emmanuelle Jouanguy, Zahra Pourmoghaddas, Shahrzad Bakhtiar, Andre M. Willasch, Gerd Horneff, Genevieve Llanora, Lynette P. Shek, Louis Y.A. Chai, Sen Hee Tay, Hamid H. Rahimi, Seyed Alireza Mahdaviani, Serdar Nepesov, Aziz A. Bousfiha, Emine Hafize Erdeniz, Adem Karbuz, Nico Marr, Carmen Navarrete, Mehdi Adeli, Lennart Hammarstrom, Hassan Abolhassani, Nima Parvaneh, Saleh Al Muhsen, Mohammed F. Alosaimi, Fahad Alsohime, Maryam Nourizadeh, Mostafa Moin, Rand Arnaout, Saad Alshareef, Jamila El-Baghdadi, Ferah Genel, Roya Sherkat, Ayça Kiykim, Esra Yücel, Sevgi Keles, Jacinta Bustamante, Laurent Abel, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis

J Exp Med (2022) 219 (10): e20220094.

DOI: https://doi.org/10.1084/jem.20220094

Published: 12 September 2022

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Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder

In Special Collection:

Neuroscience Collection 2022 , Tolerance and Autoimmunity

J Exp Med (2022) 219 (9): e20220498.

DOI: https://doi.org/10.1084/jem.20220498

Published: 10 August 2022

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Pathogenic autoantibodies to IFN-γ act through the impedance of receptor assembly and Fc-mediated response

In Special Collection:

Cytokines Collection 2022 , Tolerance and Autoimmunity

J Exp Med (2022) 219 (9): e20212126.

DOI: https://doi.org/10.1084/jem.20212126

Published: 14 July 2022

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Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

In Special Collection:

JEM Mucosal Immunology 2022

J Exp Med (2022) 219 (7): e20220202.

DOI: https://doi.org/10.1084/jem.20220202

Published: 07 June 2022

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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

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GIMAP6 regulates autophagy, immune competence, and inflammation in mice and humans

In Special Collection:

JEM Clinical Immunology Collection 2022

J Exp Med (2022) 219 (6): e20201405.

DOI: https://doi.org/10.1084/jem.20201405

Published: 13 May 2022

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Null IFNAR1 and IFNAR2 alleles are surprisingly common in the Pacific and Arctic

Isabelle Meyts

J Exp Med (2022) 219 (6): e20220491.

DOI: https://doi.org/10.1084/jem.20220491

Published: 29 April 2022

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Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic

In Special Collection:

JEM Clinical Immunology Collection 2022

J Exp Med (2022) 219 (6): e20212427.

DOI: https://doi.org/10.1084/jem.20212427

Published: 20 April 2022

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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

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Human autoantibodies underlying infectious diseases

In Special Collection:

Innate Immunity: From Basic Biology to Human Disease

Anne Puel, Paul Bastard, Jacinta Bustamante, Jean-Laurent Casanova

J Exp Med (2022) 219 (4): e20211387.

DOI: https://doi.org/10.1084/jem.20211387

Published: 23 March 2022

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Journal Articles

T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients

In Special Collection:

2022 Clinical Collection on Cancer , Journal-Based CME Activities with Journal of Experimental Medicine (JEM)

Hye Sun Kuehn, Jingjie Chang, Motoi Yamashita, Julie E. Niemela, Chengcheng Zou, Kazuki Okuyama, Junji Harada, Jennifer L. Stoddard, Cristiane J. Nunes-Santos, Brigette Boast, Ryan M. Baxter, Elena W.Y. Hsieh, Mary Garofalo, Thomas A. Fleisher, Tomohiro Morio, Ichiro Taniuchi, Cullen M. Dutmer, Sergio D. Rosenzweig

J Exp Med (2021) 218 (12): e20211118.

DOI: https://doi.org/10.1084/jem.20211118

Published: 25 October 2021

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Activated PI3Kδ signals compromise plasma cell survival via limiting autophagy and increasing ER stress

Fahd Al Qureshah, Sara Sagadiev, Christopher D. Thouvenel, Shuozhi Liu, Zhaolin Hua, Baidong Hou, Mridu Acharya, Richard G. James, David J. Rawlings

J Exp Med (2021) 218 (12): e20211035.

DOI: https://doi.org/10.1084/jem.20211035

Published: 29 September 2021

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Journal Articles

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

J Exp Med (2021) 218 (11): e20210566.

DOI: https://doi.org/10.1084/jem.20210566

Published: 02 September 2021

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Single-cell imaging of T cell immunotherapy responses in vivo

J Exp Med (2021) 218 (10): e20210314.

DOI: https://doi.org/10.1084/jem.20210314

Published: 20 August 2021

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Journal Articles

Impaired respiratory burst contributes to infections in PKCδ-deficient patients

J Exp Med (2021) 218 (9): e20210501.

DOI: https://doi.org/10.1084/jem.20210501

Published: 15 July 2021

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High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency

In Special Collection:

Cytokines Collection 2021 , Innate Immunity: From Basic Biology to Human Disease

J Exp Med (2021) 218 (8): e20202726.

DOI: https://doi.org/10.1084/jem.20202726

Published: 23 June 2021

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Journal Articles

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

J Exp Med (2021) 218 (8): e20202592.

DOI: https://doi.org/10.1084/jem.20202592

Published: 17 June 2021

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NARROW

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

Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination

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

Impaired IL-23–dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency

Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder

Pathogenic autoantibodies to IFN-γ act through the impedance of receptor assembly and Fc-mediated response

Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

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

GIMAP6 regulates autophagy, immune competence, and inflammation in mice and humans

Null IFNAR1 and IFNAR2 alleles are surprisingly common in the Pacific and Arctic

Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic

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

Human autoantibodies underlying infectious diseases

T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients

Activated PI3Kδ signals compromise plasma cell survival via limiting autophagy and increasing ER stress

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

Single-cell imaging of T cell immunotherapy responses in vivo

Impaired respiratory burst contributes to infections in PKCδ-deficient patients

High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

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