Article
Immunology
Ilona Gottschalk, Uwe Koelsch, Dimitrios L. Wagner, Jonas Kath, Stefania Martini, Renate Krueger, Anne Puel, Jean-Laurent Casanova, Aleksandra Jezela-Stanek, Rainer Rossi, Salima El Chehadeh, Hilde Van Esch, Horst von Bernuth
Summary: Patients with MECP2/IRAK1 duplication syndrome do not show excessive NF-kappa B signaling, suggesting that therapeutic suppression of this pathway may not benefit these patients.
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Article
Urology & Nephrology
Steicy Sobrino, Chrystelle Abdo, Benedicte Neven, Adeline Denis, Nathalie Gouge-Biebuyck, Emmanuel Clave, Soeli Charbonnier, Tifanie Blein, Camille Kergaravat, Marion Alcantara, Patrick Villarese, Romain Berthaud, Laurene Dehoux, Souha Albinni, Esma Karkeni, Chantal Lagresle-Peyrou, Marina Cavazzana, Remi Salomon, Isabelle Andre, Antoine Toubert, Vahid Asnafi, Capucine Picard, Stephane Blanche, Elizabeth Macintyre, Olivia Boyer, Emmanuell Six, Julien Zuber
Summary: Long-term multilineage hematopoietic donor chimerism can occur in patients who receive a transplanted solid organ with lymphoid tissues, such as the intestine or liver. However, there is currently no evidence for kidney-resident hematopoietic stem cells in any mammal species. In this study, we found that human kidney-derived hematopoietic stem cells can reside in the recipient's bone marrow and replace host counterparts, leading to full donor chimerism of both lymphoid and myeloid lineages.
KIDNEY INTERNATIONAL
(2023)
Article
Endocrinology & Metabolism
R. Giorgio, P. Anne, F. Roberto, L. Silvia, G. Nicoletta, B. Corrado
Summary: This paper describes a rare case of AIRE gene R203X heterozygous mutation causing an APECED-like condition, with an unusual and mild phenotype observed in a family. This mild phenotype provides reassurance for the patients and can assist in their clinical management.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Correction
Endocrinology & Metabolism
G. Radetti, A. Puel, R. Franceschi, S. Longhi, N. Gallo, C. Betterle
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Immunology
Oriol Fornes, Alicia Jia, Hye Sun Kuehn, Qing Min, Ulrich Pannicke, Nikolai Schleussner, Romane Thouenon, Zhijia Yu, Maria de los Angeles Astbury, Catherine M. Biggs, Miguel Galicchio, Jorge Alberto Garcia-Campos, Silvina Gismondi, Guadalupe Gonzalez Villarreal, Kyla J. Hildebrandt, Manfred Honig, Jia Hou, Despina Moshous, Stefania Pittaluga, Xiaowen Qian, Jacob Rozmus, Ansgar S. Schulz, Aide Tamara Staines-Boone, Bijun Sun, Jinqiao Sun, Schauer Uwe, Edna Venegas-Montoya, Wenjie Wang, Xiaochuan Wang, Wenjing Ying, Xiaowen Zhai, Qinhua Zhou, Altuna Akalin, Isabelle Andre, Thomas F. E. Barth, Bernd Baumann, Anne Brustle, Gaetan Burgio, Jacinta C. Bustamante, Jean-Laurent Casanova, Marco G. Casarotto, Marina Cavazzana, Loic Chentout, Ian A. Cockburn, Mariantonia Costanza, Chaoqun Cui, Oliver Daumke, Kate L. Del Bel, Hermann Eibel, Xiaoqian Feng, Vedran Franke, J. Christof M. Gebhardt, Andrea Goetz, Stephan Grunwald, Benedicte Hoareau, Timothy R. Hughes, Eva-Maria Jacobsens, Martin Janz, Arttu Jalma, Chantal Lagresle-Peyrou, Nannan Lai, Yaxuan Li, Susan Lin, Henry Y. Lu, Saul O. Lugo-Reyes, Xin Meng, Pete Moeller, Nidia Moreno-Corona, Julie E. Niemela, Gherman Novakovsky, Jareb J. Perez-Caraballo, Capucine Picard, Lucie Poggi, Maria-Emilia Puig-Lombardi, Katrina L. Randallr, Anja Reisser, Yohann Schmitt, Sandali Seneviratne, Mehul Sharma, Jennifer Stoddard, Srinivasan Sundararaj, Harry Sutton, Linh Q. Tran, Ying Wang, Wyeth W. Wasserman, Zichao Wen, Wiebke Winkler, Ermeng Xiong, Ally W. H. Yang, Meiping Yu, Lumin Zhang, Hai Zhang, Qian Zhao, Xin Zhen, Anselm Enders, Sven Kracker, Ruben Martinez-Barricarte, Stephan Mathas, Sergio D. Rosenzweig, Klaus Schwarz, Stuart E. Turvey, Ji-Yang Wang
Summary: A recurrent heterozygous mutation in IRF4 has been found to cause autosomal dominant combined immunodeficiency. This mutation leads to severe susceptibility to opportunistic infections, including Pneumocystis jirovecii, and agamma-globulinemia. The pathophysiology of this mutation disrupts normal lymphocyte biology through multimorphic changes in the function of IRF4.
SCIENCE IMMUNOLOGY
(2023)
Article
Cell Biology
Steicy Sobrino, Alessandra Magnani, Michaela Semeraro, Loredana Martignetti, Akira Cortal, Adeline Denis, Chloe Couzin, Capucine Picard, Jacinta Bustamante, Elisa Magrin, Laure Joseph, Cecile Roudaut, Aurelie Gabrion, Tayebeh Soheili, Corinne Cordier, Olivier Lortholary, Francois Lefrere, Frederic Rieux-Laucat, Jean-Laurent Casanova, Sylvain Bodard, Nathalie Boddaert, Adrian J. Thrasher, Fabien Touzot, Sophie Taque, Felipe Suarez, Ambroise Marcais, Agathe Guilloux, Chantal Lagresle-Peyrou, Anne Galy, Antonio Rausell, Stephane Blanche, Marina Cavazzana, Emmanuelle Six
Summary: X-linked chronic granulomatous disease (CGD) is a serious condition associated with defective phagocytosis, infections, and inflammatory complications. A clinical trial of lentivirus-based gene therapy was conducted on four patients, showing successful engraftment and clinical benefits in two patients, while the other two experienced loss of gene-corrected cells. Single-cell transcriptomic analysis revealed lower levels of hematopoietic stem cells (HSCs) in CGD patients, especially in those with poor engraftment. Aberrant HSC state and elevated interferon genes were identified as predictors of HSC engraftment failure.
CELL REPORTS MEDICINE
(2023)
Article
Immunology
Jacques Fourgeaud, Mathilde M. Lecuit, Philippe Perot, Julie Bruneau, Beatrice Regnault, Nicolas Da Rocha, Mael Bessaud, Capucine Picard, Eric Jeziorski, Benjamin Fournier, Romain Levy, Ambroise Marcais, Stephane Blanche, Pierre Frange, Alain Fischer, Marina Cavazzana, Agnes Ferroni, Anne Jamet, Marianne Leruez-Ville, Marc Eloit, Benedicte Neven
Summary: Using metagenomic next-generation sequencing and reverse-transcription polymerase chain reaction, we detected the Aichi virus genome in tissues of patients with primary immune deficiency and unexplained multiorgan inflammatory involvement. We showed evidence supporting the causality of Aichi virus in these cases.
CLINICAL INFECTIOUS DISEASES
(2023)
Review
Immunology
Vivien Beziat, Claire Fieschi, Mana Momenilandi, Melanie Migaud, Brahim Belaid, Reda Djidjik, Anne Puel
CURRENT OPINION IN IMMUNOLOGY
(2023)
Article
Immunology
Carlos A. Arango-Franco, Melanie Migaud, Isabel Cristina Ramirez-Sanchez, Karen Arango-Bustamante, Marcela Moncada-Velez, Julian Rojas, Adrian Gervais, Santiago Patino-Giraldo, Lizeth J. Perez-Zapata, Jesus A. Alvarez Alvareza, Julio Cesar Orrego, Gustavo Roncancio-Villamil, Stephanie Boisson-Dupuis, Emmanuelle Jouanguy, Laurent Abel, Jean-Laurent Casanova, Jacinta Bustamante, Andres A. Arias, Jose Luis Franco, Anne Puel
Summary: This study reports three Colombian patients with disseminated cryptococcosis associated with neutralizing auto-Abs against GM-CSF. Further studies should evaluate the genetic contribution to anti-GM-CSF autoantibody production and the role of the GM-CSF signaling pathway in the immune response to Cryptococcus spp.
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Article
Immunology
Tiphaine Arlabosse, Marie Materna, Orbicia Riccio, Caroline Schnider, Federica Angelini, Matthieu Perreau, Isabelle Rochat, Andrea Superti-Furga, Belinda Campos-Xavier, Sebastien Heritier, Anais Pereira, Caroline Deswarte, Romain Levy, Marco Distefano, Jacinta Bustamante, Marie Roelens, Raphael Borie, Mathilde Le Brun, Bruno Crestani, Jean-Laurent Casanova, Anne Puel, Michael Hofer, Claire Fieschi, Katerina Theodoropoulou, Vivien Beziat, Fabio Candotti
Summary: Patients with autosomal dominant hyper-IgE syndrome suffer from various symptoms, such as recurrent infections, severe allergies, and skeletal abnormalities. The condition is usually caused by dominant-negative STAT3 variants. Recently, new dominant-negative IL6ST variants have been discovered in three unrelated families, with different biochemical and clinical impacts compared to previously reported variants.
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Article
Immunology
Quentin C. Philippot, Arnaud Fekkar, Adrian Gervais, Tom Le Voyer, Leonoor Boers, Clement Conil, Lucy Bizien, Justin de Brabander, Jan Willem Duitman, Alessia Romano, Jeremie Rosain, Marion Blaize, Melanie Migaud, Maxime Jeljeli, Boualem Hammadi, Aurore Desmons, Astrid Marchal, ArtDECO Consortium, COVID HGE Consortium, Julien Mayaux, Qian Zhang, Emmanuelle Jouanguy, Raphael Borie, Bruno Crestani, Charles Edouard Luyt, Homa Adle-Biassette, Damien Sene, Bruno Megarbane, Aurelie Cobat, Paul Bastard, Lieuwe D. J. Bos, Jean-Laurent Casanova, Anne Puel
Summary: Autoantibodies neutralizing type I interferons (IFNs) were found in the blood and bronchoalveolar lavage (BAL) of patients with life-threatening COVID-19 pneumonia. The presence of these autoantibodies in the lower respiratory tract suggests impaired type I IFN immunity, contributing to severe COVID-19 pneumonia.
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Article
Immunology
Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C. W. Jones, Lucia Pacillo, Alyssa E. James, Jill R. Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L. Del Bel, Henry Y. Lu, Gilbert T. Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P. Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A. Sharma, Joshua Dalmann, Robin van der Lee, Geraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip A. Richmond, Jessica J. Lee, Allison Matthews, Michael Seear, Alexandra K. Turvey, Rachael L. Philips, Terri F. Brown-Whitehorn, Christopher J. Gray, Kosuke Izumi, James R. Treat, Kathleen H. Wood, Justin Lack, Asya Khleborodova, Julie E. Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I. van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui Wah Lee, Marco Hok Kung Ho, Brian Hon Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique Bullens, Kate Sauer, Tania Claeys, Catherine M. Biggs, Emma C. Morris, Sergio D. Rosenzweig, John J. O'Shea, Wyeth W. Wasserman, H. Melanie Bedford, Clara D. M. van Karnebeek, Paolo Palma, Siobhan O. Burns, Isabelle Meyts, Jean-Laurent Casanova, Jonathan J. Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L. McKinnon, Yu Lung Lau, Vivien Beziat, Stuart E. Turvey
Summary: Sharma et al. define a new primary atopic disorder caused by heterozygous gain-of-function variants in STAT6. This leads to severe early-onset allergies in 16 patients from 10 families. Treatment with anti-IL-4Rα antibody and JAK inhibitor is highly effective.
JOURNAL OF EXPERIMENTAL MEDICINE
(2023)
Article
Immunology
Ana Garcia-Garcia, Rebeca Perez de Diego, Carlos Flores, Darawan Rinchai, Jordi Sole-Violan, Angela Deya-Martinez, Blanca Garcia-Solis, Jose M. Lorenzo-Salazar, Elisa Hernandez-Brito, Anna-Lisa Lanz, Leen Moens, Giorgia Bucciol, Mohamed Almuqamam, Joseph Domachowske, Elena Colino, Juan Luis Santos-Perez, Francisco Marco, Claudio Pignata, Aziz Bousfiha, Stuart Turvey, Stefanie Bauer, Filomeen Haerynck, Javier Gonzalo Ocejo-Vinyals, Francisco Lendinez, Seraina Prader, Nora Naumann-Bartsch, Jana Pachlopnik Schmid, Catherine Biggs, Kyla Hildebrand, Alexandra Dreesman, Miguel Angel Cardenes, Fatima Ailal, Ibtihal Benhsaien, Giuliana Giardino, Agueda Molina-Fuentes, Claudia Fortuny, Swetha Madhavarapu, Daniel Conway, Carolina Prando, Laire Schidlowski, Maria Teresa Martinez de Saavedra Alvarez, Rafael Alfaro, Felipe Rodriguez de Castro, Isabelle Meyts, Fabian Hauck, Anne Puel, Paul Bastard, Bertrand Boisson, Emmanuelle Jouanguy, Laurent Abel, Aurelie Cobat, Qian Zhang, Jean-Laurent Casanova, Laia Alsina, Carlos Rodriguez-Gallego
Summary: X-linked recessive deficiency of TLR7 impairs SARS-CoV-2 recognition and type I IFN production, resulting in hypoxemic COVID-19 pneumonia. 22 unvaccinated patients with autosomal recessive MyD88 or IRAK-4 deficiency were infected with SARS-CoV-2, with a high risk of severe pneumonia. Impaired TLR7-dependent type I IFN production contributes to their susceptibility to SARS-CoV-2.
JOURNAL OF EXPERIMENTAL MEDICINE
(2023)
Article
Immunology
Kunihiko Moriya, Tomohiro Nakano, Yoshitaka Honda, Miyuki Tsumura, Masato Ogishi, Motoshi Sonoda, Masahiko Nishitani-Isa, Takashi Uchida, Mohamed Hbibi, Yoko Mizoguchi, Masataka Ishimura, Kazushi Izawa, Takaki Asano, Fumihiko Kakuta, Daiki Abukawa, Darawan Rinchai, Peng Zhang, Naotomo Kambe, Aziz Bousfiha, Takahiro Yasumi, Bertrand Boisson, Anne Puel, Jean-Laurent Casanova, Ryuta Nishikomori, Shouichi Ohga, Satoshi Okada, Yoji Sasahara, Shigeo Kure
Summary: This study reports six patients from five families with RELA mutations, leading to autoinflammatory and autoimmune manifestations. The mutations result in loss of function of RelA protein, leading to excessive IFN expression and autoimmune response. The DN RELA mutations are identified as a novel cause of chronic mucocutaneous ulcerations with autoinflammatory and autoimmune manifestations.
JOURNAL OF EXPERIMENTAL MEDICINE
(2023)
Review
Genetics & Heredity
Marie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon, Joseph C. Roney, Jenny Serra-Vinardell, Prashant Sharma, David R. Adams, John Gallin, Steven M. Holland, Sergio D. Rosenzweig, Jose Barbot, Carla Ciccone, Marjan Huizing, Camilo Toro, William A. Gahl, Wendy J. Introne, May Christine Malicdan
Summary: The study identified 11 novel pathogenic LYST variants in patients with CHS, adding to a total of 147 variants in LYST. A genotype-phenotype correlation was observed, indicating that individuals with missense or in-frame variants usually have milder disease compared to those with nonsense or frameshift variants.
JOURNAL OF MEDICAL GENETICS
(2023)