Review
Endocrinology & Metabolism
Ben F. Brian, Tanya S. Freedman
Summary: Effective regulation of immune-cell activation is crucial to minimize tissue damage caused by unrestrained inflammation and immune response. Lyn kinase plays a critical role in regulating immunoreceptor signaling, and defects in Lyn signaling can lead to autoimmune disease.
Article
Immunology
Rachel H. Bonami, Christina E. Thurman, Sonam Verma, Camille S. Westlake, Lindsay E. Nyhoff, Bridgette B. Barron, Andrea Reboldi, Peggy L. Kendall
Summary: This study reveals that BTK is crucial for maintaining normal intestinal IgA development and the IgA coating of commensal bacteria. Deficiency in BTK leads to decreased IgA levels in the small intestines and a shift in the composition of IgA-coated microbes.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Immunology
Jiatao Zhou, Zhihui Xiao, Yanli Zhan, Xuemei Qu, Sisi Mou, Chong Deng, Tianxiang Zhang, Xin Lan, Shengfeng Huang, Yingqiu Li
Summary: A novel immunoreceptor BbLcLRR phosphorylated by Lck was identified in amphioxus, which exerts a phosphorylation-dependent inhibitory role in TCR-mediated T-cell activation, indicating a mechanism for maintaining self-tolerance and homeostasis of the amphioxus immune system.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Dermatology
Qinqin Meng, Mei Bai, Meiliang Guo, Zhengxiao Li, Wanwen Liu, Xiaojing Fan, Rui Sun, Xinrong Yang, Dingfen Yuan, Yuling Shi, Hui Deng
Summary: The regulatory role of SGK1 in psoriasis and its underlying molecular mechanism are not well understood. This study found that SGK1 expression was decreased in macrophages from psoriasis patients. Moreover, SGK1 inhibition enhanced toll-like receptor 7/8 activation and proinflammatory cytokine production.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2023)
Article
Medicine, Research & Experimental
Orestis Papasouliotis, David Mitchell, Pascal Girard, Fernando Dangond, Martin Dyroff
Summary: This study analyzed the pharmacokinetics and pharmacodynamics of Evobrutinib in treating relapsing multiple sclerosis. The findings suggest that appropriate exposure of Evobrutinib is associated with clinical response, and the study provides recommendations for dosing regimens. Simulations indicate that Evobrutinib is likely to maintain steady-state levels during treatment.
CTS-CLINICAL AND TRANSLATIONAL SCIENCE
(2022)
Review
Biochemistry & Molecular Biology
Javier Torres-Jimenez, Victor Albarran-Fernandez, Javier Pozas, Maria San Roman-Gil, Jorge Esteban-Villarrubia, Alfredo Carrato, Adriana Rosero, Enrique Grande, Teresa Alonso-Gordoa, Javier Molina-Cerrillo
Summary: Urothelial carcinoma, one of the most prevalent types of cancer worldwide, is experiencing a paradigm shift in its therapeutic landscape with the development of different therapies. Increased knowledge of the pathogenesis and genetic alterations in urothelial carcinoma is also contributing to this transformation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Allergy
Alaz Oezcan, Onur Boyman
Summary: Neutrophils play crucial roles in immune responses, and the traditional simplistic understanding of neutrophils has been revised, revealing their cell- and tissue-specific roles in immune responses as well as sophisticated feedback mechanisms regulating their responses.
Editorial Material
Genetics & Heredity
Ivona Aksentijevich
Summary: Immune responses require a delicate balance - too weak or too strong a response can cause issues. Spleen tyrosine kinase plays a crucial role in multiple signaling pathways, and its gain-of-function alterations can lead to various problems, including hypogammaglobulinemia and predisposition to B cell lymphoma.
Review
Cell Biology
Stefan F. H. Neys, Rudi W. Hendriks, Odilia B. J. Corneth
Summary: BTK plays a crucial role in B cell development and BCR signaling. Recent studies suggest increased BTK expression in patients with autoimmune diseases, making it a potential target in inflammatory and systemic AID. Inhibition of BTK has shown efficacy in various diseases, with recent reports even indicating its effectiveness in reducing lung inflammation in COVID-19.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Editorial Material
Immunology
Pin Li, Napoleone Ferrara
Summary: This study reveals the crosstalk between VEGF receptors in different organs and emphasizes the importance of VEGF receptor expression and interplay in vascular heterogeneity.
JOURNAL OF EXPERIMENTAL MEDICINE
(2022)
Article
Medicine, Research & Experimental
Nadia Somasundaram, Oliver Meyer, Carmen Scheibenbogen, Leif Gunnar Hanitsch, Anna Stittrich, Uwe Koelsch, Kirsten Wittke
Summary: This study conducted a clinical and immunological characterization of 20 patients with CVID-related ITP and 20 ITP patients without CVID to compare disease severity and remission rates. It was found that patients with CVID-related ITP had higher initial bleeding scores, but higher remission rates and required less treatment. In addition, soluble interleukin-2 receptor (sIL-2R, CD25) was found to be higher in CVID-related ITP patients compared to ITP patients. Screening ITP patients for CVID and other immunodeficiencies is recommended to detect immune abnormalities early.
CLINICAL AND EXPERIMENTAL MEDICINE
(2023)
Review
Immunology
Luca Quartuccio, Ginevra De Marchi, Simone Longhino, Valeria Manfre, Maria Teresa Rizzo, Saviana Gandolfo, Alberto Tommasini, Salvatore De Vita, Robert Fox
Summary: CVID is a group of rare diseases of the immune system, with approximately half of the patients developing non-infective complications, mainly autoimmune features such as thyroiditis and cytopenias. While autoimmune disorders associated with CVID are often attributed to SLE, Sjogren's syndrome might be a better candidate. This is due to its lymphocyte aggressive nature, higher frequency of MALT lymphoma, and presence of germ line encoded paraproteins consistent with CVID.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Immunology
Ilaria Mormile, Alessandra Punziano, Carlo Alberto Riolo, Francescopaolo Granata, Michela Williams, Amato de Paulis, Giuseppe Spadaro, Francesca Wanda Rossi
Summary: CVID patients often present with autoimmune complications, with the most common manifestations being cytopenias, arthritis, psoriasis, and vitiligo. Laboratory data showed no significant differences in immunoglobulin levels and lymphocyte counts between patients with or without autoimmune manifestations.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Medicine, General & Internal
Cesar Picado, Adriana P. Garcia-Herrera, Jose Hernandez-Rodriguez, Alexandru Vlagea, Mariona Pascal, Joan Bartra, Jose Manuel Mascaro
Summary: Selective immunoglobulin E deficiency (SIgED) is an unrecognized primary immunodeficiency that is associated with various skin manifestations and autoimmune diseases.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Biochemistry & Molecular Biology
Manali Tilak, Jennifer Holborn, Laura A. New, Jasmin Lalonde, Nina Jones
Summary: Glioblastoma multiforme (GBM) is a deadly cancer with limited response to existing therapies. Subtypes of GBM with distinct genetic signatures show aberrant activation of signal transduction pathways. Current research focuses on understanding these molecular alterations to develop more efficient targeted therapies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Immunology
Zineb Sbihi, Kay Tanita, Camille Bachelet, Christine Bole, Fabienne Jabot-Hanin, Frederic Tores, Marc Le Loch, Radi Khodr, Akihiro Hoshino, Christelle Lenoir, Matias Oleastro, Mariana Villa, Lucia Spossito, Emma Prieto, Silvia Danielian, Erika Brunet, Capucine Picard, Takashi Taga, Shimaa Said Mohamed Ali Abdrabou, Takeshi Isoda, Masafumi Yamada, Alejandro Palma, Hirokazu Kanegane, Sylvain Latour
Summary: This study identifies a key promoter sequence in the first non-coding exon of XIAP, which is involved in XIAP deficiency. The loss of this promoter sequence may lead to reduced XIAP expression. The findings suggest that sequencing of non-coding exons should be considered in the genetic diagnosis of XIAP deficiency when no variations are found in coding exons.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Article
Pediatrics
Jean-Sebastien Diana, Naim Bouazza, Chloe Couzin, Martin Castelle, Alessandra Magnani, Elisa Magrin, Jeremie Rosain, Jean-Marc Treluyer, Capucine Picard, Despina Moshous, Stephane Blanche, Benedicte Neven, Marina Cavazzana
Summary: The study successfully predicted the time course and extent of CD4+ T-cell immune reconstitution after CD34+ selected transplantation using a Bayesian modeling approach based on age-related changes in thymic output and the cell proliferation/loss model.
FRONTIERS IN PEDIATRICS
(2022)
Article
Immunology
Benjamin Fournier, Akihiro Hoshino, Julie Bruneau, Camille Bachelet, Mathieu Fusaro, Roman Klifa, Romain Levy, Christelle Lenoir, Claire Soudais, Capucine Picard, Stephane Blanche, Martin Castelle, Despina Moshous, Thierry Molina, Anne-Sophie Defachelles, Benedicte Neven, Sylvain Latour
Summary: This article reports a patient with heterozygous 22q11.2 deletion/DiGeorge syndrome, who had a unique, broad, and lethal susceptibility to EBV characterized by EBV-infected T and B cells and disseminated EBV+SMT. The patient carried a homozygous missense mutation in TNFSF9 gene, which predisposed to EBV infection. The study uncovered the critical role of the CD137-CD137L pathway in anti-EBV immunity.
JOURNAL OF EXPERIMENTAL MEDICINE
(2022)
Article
Pediatrics
Ewa Bernatowska, Malgorzata Pac, Edyta Heropolitanska-Pliszka, Barbara Pietrucha, Nel Dabrowska-Leonik, Malgorzata Skomska-Pawliszak, Katarzyna Bernat-Sitarz, Katarzyna Krzysztopa-Grzybowska, Beata Wolska-Kusnierz, Nadia Bohynikova, Ewa Augustynowicz, Ewa Augustynowicz-Kopec, Maria Korzeniewska-Kosela, Anna Wieteska-Klimczak, Janusz Ksiazyk, Teresa Jackowska, Mirjam Van den Burg, Jean-Laurent Casanova, Capucine Picard, Bozena Mikoluc
Summary: This study aimed to evaluate the complications of BCG vaccination in patients with Inborn Errors of Immunity (IEI). The results showed that the BCG Moreau vaccine had a superior safety profile compared to other substrains, with significantly fewer cases of disseminated BCG infections (BCGosis) and deaths caused by BCG infection in patients with Severe Combined Immunodeficiency (SCID) and Mendelian susceptibility to mycobacterial diseases (MSMD). The study also confirmed the protecting role of NK cells in preventing BCGosis.
FRONTIERS IN PEDIATRICS
(2022)
Article
Immunology
Akihiro Hoshino, David Boutboul, Yuan Zhang, Hye Sun Kuehn, Jerome Hadjadj, Nihal Ozdemir, Tiraje Celkan, Christoph Walz, Capucine Picard, Christelle Lenoir, Nizar Mahlaoui, Christoph Klein, Xiao Peng, Antoine Azar, Erin Reigh, Morgane Cheminant, Alain Fischer, Frederic Rieux-Laucat, Isabelle Callebaut, Fabian Hauck, Joshua Milner, Sergio D. Rosenzweig, Sylvain Latour
Summary: This study identified IKZF1 variants in the DNA binding domain that cause inflammatory, autoimmune, allergic symptoms, and abnormal plasma cell proliferation. These variants act as gain-of-function alleles, leading to increased gene expression associated with T(H)2 and plasma cell differentiation. Treatment with Lenalidomide can correct these abnormalities.
SCIENCE IMMUNOLOGY
(2022)
Article
Biophysics
Ambroise Marcais, Nizar Mahlaoui, Benedicte Neven, Fanny Lanternier, Emilie Catherinot, Helene Salvator, Morgane Cheminant, Maxime Jeljeli, Vahid Asnafi, Peter van Endert, Louis-Jean Couderc, Olivier Lortholary, Capucine Picard, Despina Moshous, Olivier Hermine, Alain Fischer, Felipe Suarez
Summary: Allo-HSCT is an effective and safe treatment for young adults with primary immunodeficiency disease (PID), with acceptable toxicity and clinical improvement.
BONE MARROW TRANSPLANTATION
(2022)
Article
Immunology
Stuart G. Tangye, Waleed Al-Herz, Aziz Bousfiha, Charlotte Cunningham-Rundles, Jose Luis Franco, Steven M. Holland, Christoph Klein, Tomohiro Morio, Eric Oksenhendler, Capucine Picard, Anne Puel, Jennifer Puck, Mikko R. J. Seppanen, Raz Somech, Helen C. Su, Kathleen E. Sullivan, Troy R. Torgerson, Isabelle Meyts
Summary: The International Union of Immunological Societies Expert Committee has published an updated classification of inborn errors of immunity, which includes 55 novel monogenic gene defects and 1 phenocopy caused by autoantibodies. This update contributes to our understanding of the molecular, cellular, and immunological mechanisms of human immune diseases, and provides a resource for molecular diagnosis of heritable immunological disorders and scientific research on monogenic and related human immune diseases.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Review
Immunology
Helene Vergneault, Capucine Picard, Sophie Georgin-Lavialle
Summary: In recent years, the spectrum of monogenic systemic auto-inflammatory diseases (MSAID) has expanded beyond recurrent fever. Various MSAID are associated with immuno-haematological features such as cytopenias, hypogammaglobulinemia, hypereosinophilia, lymphoproliferation, and immunodeficiency. This review describes these specific MSAID and proposes a clinical and pragmatic approach for their diagnosis.
Article
Immunology
Aziz Bousfiha, Abderrahmane Moundir, Stuart G. Tangye, Capucine Picard, Leila Jeddane, Waleed Al-Herz, Charlotte C. Rundles, Jose Luis Franco, Steven M. Holland, Christoph Klein, Tomohiro Morio, Eric Oksenhendler, Anne Puel, Jennifer Puck, Mikko R. J. Seppanen, Raz Somech, Helen C. Su, Kathleen E. Sullivan, Troy R. Torgerson, Isabelle Meyts
Summary: The article provides an updated phenotypic classification of IEI for clinicians, covering 485 underlying phenotypes, including novel monogenic defects and an autoimmune phenocopy.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Article
Immunology
Vincent Allain, Virginie Grandin, Veronique Meignin, Remi Bertinchamp, David Boutboul, Claire Fieschi, Lionel Galicier, Laurence Gerard, Marion Malphettes, Jacinta Bustamante, Mathieu Fusaro, Nathalie Lambert, Jeremie Rosain, Christelle Lenoir, Sven Kracker, Frederic Rieux-Laucat, Sylvain Latour, Jean-Pierre De Villartay, Capucine Picard, Eric Oksenhendler
Summary: This study found that lymphoma may be a revealing symptom of an underlying primary immunodeficiency in patients with hypogammaglobulinemia, challenging the distinction between primary and secondary hypogammaglobulinemia. The occurrence of Hodgkin lymphoma was more common prior to the diagnosis of hypogammaglobulinemia, while MALT lymphoma was absent. Genetic analysis identified a molecular diagnosis in some patients, with a significant portion presenting with late-onset combined immunodeficiency.
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
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)
Editorial Material
Immunology
Noemie Paillon, Claire Hivroz
Summary: A study finds that the inhibitory protein CTLA4 internalizes B7 stimulatory molecules in cells, which prevents stimulatory T-T interactions.
JOURNAL OF EXPERIMENTAL MEDICINE
(2023)