Article
Immunology
Basak Kayaoglu, Nurhan Kasap, Naz Surucu Yilmaz, Louis Marie Charbonnier, Busranur Geckin, Arzu Akcay, Sevgi Bilgic Eltan, Gulyuz Ozturk, Ahmet Ozen, Elif Karakoc-Aydiner, Talal A. Chatila, Mayda Gursel, Safa Baris
Summary: This study investigated the effect of ruxolitinib as a bridge therapy in managing infections and other disease manifestations in a patient with sporadic STAT1 T385M mutation. Ruxolitinib provided favorable responses in controlling candidiasis and autoimmune hemolytic anemia, improved dysregulation in STAT1 phosphorylation kinetics, and normalized T(H)17 deficiency after transplantation. Dysregulated gene expression related to immune pathways was partially improved with ruxolitinib treatment and completely normalized after transplantation, suggesting potential benefits in reducing the risk of adverse outcomes of HSCT.
JOURNAL OF CLINICAL IMMUNOLOGY
(2021)
Article
Allergy
Safa Baris, Mehdi Benamar, Qian Chen, Mehmet Cihangir Catak, Monica Martinez-Blanco, Muyun Wang, Jason Fong, Michel J. Massaad, Asena Pinar Sefer, Altan Kara, Royala Babayeva, Sevgi Bilgic Eltan, Ayse Deniz Yucelten, Emine Bozkurtlar, Leyla Cinel, Elif Karakoc-Aydiner, Yumei Zheng, Hao Wu, Ahmet Ozen, Klaus Schmitz-Abe, Talal A. Chatila
Summary: This study reports a child with a novel gain-of-function STAT6 mutation, leading to severe allergic manifestations. The patient had enhanced TH2 responses and suppressed TH1 and TH17 responses. Treatment with the Janus kinase 1/2 inhibitor ruxolitinib improved the patient's condition by reversing STAT6 hyperresponsiveness.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2023)
Article
Immunology
Rachael P. Jackman, Orsolya Darst, Betty Gaillard, Johnson Q. Tran, Mary M. Tomayko, Marcus O. Muench
Summary: The study found that ablative chemotherapy can increase alloantibody responses to allogeneic platelet transfusion, contrary to the hypothesis. This enhanced response was associated with increased CD4+ and CD8+ T cell responses. Ablative chemotherapy led to rapid lymphocyte depletion, non-specific activation of transitional B cells, and increased serum levels of B cell activating factor (BAFF).
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Medicine, General & Internal
Rossella Cifaldi, Francesco Salton, Paola Confalonieri, Liliana Trotta, Mariangela Barbieri, Luca Ruggero, Gianmaria Valeri, Riccardo Pozzan, Rossana Della Porta, Metka Kodric, Elisa Baratella, Mattia Bellan, Selene Lerda, Michael Hughes, Marco Confalonieri, Maria Assunta Cova, Ilaria Gandin, Lucrezia Mondini, Barbara Ruaro
Summary: This study aimed to evaluate whether immune system alterations detected by lymphocyte typing in peripheral blood correlate with the severity of sarcoidosis. The results showed that lymphocyte subpopulation values at the time of diagnosis do not appear to correlate with disease severity at onset.
Article
Allergy
Panfeng Tao, Xu Han, Qintao Wang, Shihao Wang, Jiahui Zhang, Lin Liu, Xiaorui Fan, Chenlu Liu, Meng Liu, Li Guo, Pui Y. Lee, Ivona Aksentijevich, Qing Zhou
Summary: This study highlights the critical role of PLCy1 in maintaining immune homeostasis and illustrates immune dysregulation as a consequence of PLCy1 activation. Additionally, we provide insight into therapeutic targeting of PLCy1.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2023)
Article
Pediatrics
Robert B. Lindell, Michael S. Wolf, Alicia M. Alcamo, Michael A. Silverman, Daniel E. Dulek, William R. Otto, Timothy S. Olson, Carrie L. Kitko, Paisit Paueksakon, Kathleen Chiotos
Summary: Disseminated toxoplasmosis is a rare but lethal complication after HCT, presenting as hyperferritinemic sepsis, which is both treatable and challenging to diagnose. Maintaining a high index of suspicion for Toxoplasma gondii infection is crucial in managing immunocompromised children, especially those with known positive T. gondii serologies.
FRONTIERS IN PEDIATRICS
(2021)
Review
Immunology
Sigal Matza Porges, Oded Shamriz
Summary: Approximately 10% of cancers have a hereditary predisposition, but genetic diagnosis is not available in 60%-80% of familial cancers. Immune dysregulation-mediated diseases are frequent in some of these families, and dysregulation of the immune system can increase the risk of developing cancer. Genetic counseling currently focuses on known genes that raise the risk of cancer, but for missing hereditary familial cases, the family history of immune dysregulation should be recorded and analyzed for genes related to the immune system. Patients with immune disorders diagnosed with a pathogenic mutation in an immune regulatory gene may have an increased risk of cancer and require surveillance. Gene panel and exome sequencing are standard methods for genetic diagnosis, providing an opportunity to test cancer and immune genes together.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY
(2022)
Review
Immunology
Riccardo Papa, Federica Penco, Stefano Volpi, Marco Gattorno
Summary: An increasing number of monogenic immune-mediated diseases are linked to genes associated with actin cytoskeleton remodeling pathways. These diseases range from pure autoinflammatory conditions to primary immunodeficiencies, with a common theme of cytoskeleton defects. This emerging field provides immunologists with new insights into the physiological and pathological roles of actin cytoskeleton in immune cells.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Immunology
Mengyue Deng, Yue Li, Yulu Li, Xiaolan Mao, Han Ke, Weiling Liang, Xiaoguang Lei, Yu-Lung Lau, Huawei Mao
Summary: Signal transducer and activator of transcription 3 (STAT3) gain-of-function (GOF) mutations can cause early-onset immune dysregulation syndrome. In this study, a patient with fatal infancy-onset interstitial lung disease (ILD) was reported. A novel heterozygous mutation in STAT3 was identified, which was a gain-of-function mutation. The study also provided evidence of a specific STAT3 inhibitor effectively suppressing the activation of mutant STAT3 in vitro.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Cell & Tissue Engineering
J. Lacy Kamm, Christopher B. Riley, Natalie A. Parlane, Erica K. Gee, C. Wayne Mcllwraith
Summary: The study found that MHC II-low MSCs are the most appropriate type of allogeneic MSC to prevent activation of the innate and cell-mediated component of the adaptive immune systems and have increased gene expression as compared to other allogeneic MSCs.
STEM CELL RESEARCH & THERAPY
(2021)
Article
Immunology
Zhixing Hao, Mingjie Lin, Feng Du, Zhongwei Xin, Dang Wu, Qun Yu, Yimin Wu, Zhouyu Zhu, Wenshan Li, Yongyuan Chen, Xiaoke Chen, Ying Chai, Shenghang Jin, Pin Wu
Summary: This study identified systemic immune dysregulation in the peripheral blood of early NSCLC patients and demonstrated the correlation between these dysregulations and clinical features. These findings suggest that systemic immune dysregulation is involved in cancer development and may be a promising candidate for high-risk screening and treatment strategies for early NSCLC.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Immunology
Paola de Haas, Marien I. de Jonge, Hans J. P. M. Koenen, Ben Joosten, Mirian C. H. Janssen, Lonneke de Boer, Wiljan J. A. J. Hendriks, Dirk J. Lefeber, Alessandra Cambi
Summary: Congenital disorders of glycosylation (CDG) are a group of genetic metabolic diseases characterized by abnormal synthesis, attachment, or processing of protein glycosylation. Recent studies have shown immunological dysfunctions in some types of CDG. However, there is still limited research on immune cell dysfunction in PMM2-CDG and other CDG types. Immune cell models that mimic PMM2-CDG could overcome the challenges of studying patient immune cells, such as limited availability of patient material. Initial observations show abnormal surface glycosylation patterns and slightly increased uptake of fungal particles in PMM2-CDG monocytes. The use of PMM2 knockdown THP-1 monocytes as a model may be superior to tunicamycin-treated THP-1 cells for studying immune dysfunction in CDG.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Rheumatology
Kelsey Lecerf, Daniel C. Koboldt, Hye Sun Kuehn, Vijayakumar Jayaraman, Kristy Lee, Theresa Mihalic Mosher, Jennifer R. Yonkof, Mari Mori, Scott E. Hickey, Samuel Franklin, Joanne Drew, Shoghik Akoghlanian, Vidya Sivaraman, Sergio D. Rosenzweig, Richard K. Wilson, Roshini S. Abraham
Summary: This study aimed to explore and define the molecular cause of Bechet's-like mucocutaneous ulcerations and immune dysregulation in a multi-generational kindred. Whole genome sequencing and immunoblotting were performed, revealing a novel variant in the RELA gene that may be causative for the clinical phenotype observed in these patients.
Article
Biochemistry & Molecular Biology
Leonardo Vinicius Barbosa, Daniele Margarita Marani Pra, Seigo Nagashima, Marcos Roberto Curcio Pereira, Rebecca Benicio Stocco, Francys de Luca Fernandes da Silva, Milena Rueda Cruz, Djessyka Dallagassa, Thiago Joao Stupak, George Willian Xavier da Rosa Gotz, Georgia Garofani Nasimoto, Luiz Augusto Fanhani Cracco, Isabela Busto Silva, Karen Fernandes de Moura, Marina de Castro Deus, Ana Paula Camargo Martins, Beatriz Akemi Kondo Van Spitzenbergen, Andrea Novais Moreno Amaral, Caroline Busatta Vaz de Paula, Cleber Machado-Souza, Lucia de Noronha
Summary: The COVID-19 pandemic has caused widespread morbidity and mortality, with a fine balance between protective immune responses and pathological reactions. This study evaluated tissue biomarker expression in patients who died of COVID-19 and found differences compared to patients who died of H1N1, suggesting a poor cellular response in COVID-19 patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Endocrinology & Metabolism
Mathis Grossmann, Gary A. Wittert
Summary: Energy deficit can lead to dysregulation of the male gonadal axis, lowering testosterone levels. This dysregulation is functional and generally reversible with restoration of energy balance. Clinical management should focus on restoring adequate nutrition and achieving a healthy body weight.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Editorial Material
Infectious Diseases
Annabel A. Powell, Freja Kirsebom, Julia Stowe, Kelsey McOwat, Vanessa Saliba, Mary E. Ramsay, Jamie Lopez-Bernal, Nick Andrews, Shamez N. Ladhani
LANCET INFECTIOUS DISEASES
(2022)
Letter
Immunology
Sarah V. Williams, Heather J. Whitaker, Lisa Mumford, Chris Callaghan, Rebecca M. K. Curtis, Julia Stowe, Freja Kirsebom, James Thomas, Ines Ushiro-Lumb, Rommel Ravanan, Jamie Lopez-Bernal
Article
Pediatrics
Helen Ratcliffe, K. S. Tiley, Nick Andrews, Gayatri Amirthalingam, I Vichos, E. Morey, N. L. Douglas, S. Marinou, Emma Plested, Parvinder Aley, Eva P. Galiza, Saul N. Faust, S. Hughes, Clare S. Murray, Marion Roderick, Fiona Shackley, Sam J. Oddie, Tim Lees, D. P. J. Turner, M. Raman, Stephen Owens, Paul Turner, H. Cockerill, J. Lopez Bernal, E. Linley, Ray Borrow, Kevin Brown, Mary Elizabeth Ramsay, M. Voysey, Matthew D. Snape
Summary: The objective of this study was to understand the community seroprevalence of SARS-CoV-2 in children and adolescents. The study found that approximately one-third of participants aged 15-18 years old had evidence of antibodies against SARS-CoV-2 prior to the introduction of widespread vaccination. Furthermore, ethnic background was found to be independently associated with the risk of SARS-CoV-2 infection in children.
ARCHIVES OF DISEASE IN CHILDHOOD
(2023)
Article
Computer Science, Information Systems
Elise Tessier, Michael Edelstein, Camille Tsang, Freja Kirsebom, Charlotte Gower, Colin N. J. Campbell, Mary Ramsay, Joanne White, Nick Andrews, Jamie Lopez-Bernal, Julia Stowe
Summary: A national vaccine register was established in England to collect data on COVID-19 vaccinations delivered in various settings. The register allows for verification of vaccination records through individual self-reporting. This system has enabled the UK Health Security Agency to estimate vaccine coverage and provide rapid and accurate vaccine effectiveness estimates.
INTERNATIONAL JOURNAL OF MEDICAL INFORMATICS
(2023)
Article
Infectious Diseases
Annabel A. Powell, Freja Kirsebom, Julia Stowe, Mary E. Ramsay, Jamie Lopez-Bernal, Nick Andrews, Shamez N. Ladhani
Summary: This study aimed to estimate the protection against Delta and Omicron variants in adolescents with previous infection, mRNA vaccination, and hybrid immunity. The findings showed that previous infection provided some protection against subsequent reinfection, and vaccination added to this protection. Hybrid immunity provided the most robust protection. Therefore, the need for additional booster doses for adolescents in populations with already high protection is questioned.
LANCET INFECTIOUS DISEASES
(2023)
Article
Infectious Diseases
Shamez N. Ladhani, Alexander C. Dowell, Scott Jones, Bethany Hicks, Cathy Rowe, Jusnara Begum, Dagmar Wailblinger, John Wright, Stephen Owens, Ailsa Pickering, Benjamin Shilltoe, Paddy Mcmaster, Elizabeth Whittaker, Jianmin Zuo, Annabel Powell, Gayatri Amirthalingam, Sema Mandal, Jamie Lopez-Bernal, Mary E. Ramsay, Neave Kissane, Michael Bell, Heather Watson, David Ho, Bassam Hallis, Ashley Otter, Paul Moss, Jonathan Cohen
Summary: This study assessed the safety, immune response, and reactogenicity of MVA-BN vaccine in children. The results showed that the vaccine induced a robust immune response with no serious adverse events. This supports the use of MVA-BN vaccine for post-exposure prophylaxis in children, but larger studies are needed for further evaluation.
LANCET INFECTIOUS DISEASES
(2023)
Article
Medicine, General & Internal
Robin Marlow, Marion Roderick, Jennifer Oliver, Zoe Jordan, Gayatri Amirthalingam, Jamie Lopez-Bernal, Adam Finn, Fernanda Rodrigues
Summary: This study aims to assess the impact of pediatric chickenpox on quality of life and collect relevant data through observation and survey in the UK and Portugal. The results will be used to estimate the loss of quality-adjusted life years for cases of chickenpox and its complications. The results will be published in peer-reviewed publications.
Letter
Infectious Diseases
Nurin Abdul Aziz, Sophie Grace Nash, Asad Zaidi, Tommy Nyberg, Natalie Groves, Russell Hope, Jamie Lopez Bernal, Gavin Dabrera, Simon Thelwall
JOURNAL OF INFECTION
(2023)
Article
Infectious Diseases
Freja Cordelia Moller Kirsebom, Nick Andrews, Julia Stowe, Mary Ramsay, Jamie Lopez Bernal
Summary: This study aims to estimate the long-term duration of protection provided by monovalent COVID-19 vaccines and the incremental vaccine effectiveness of bivalent BA.1 boosters. The study found that monovalent COVID-19 vaccines offer moderate long-term protection against hospitalization in people aged 65 years or older, and that bivalent BA.1 boosters were effective in preventing hospitalization among people aged 50 years or older, especially during the circulation of omicron lineages in England.
LANCET INFECTIOUS DISEASES
(2023)
Article
Public, Environmental & Occupational Health
Hester Allen, Elise Tessier, Charlie Turner, Charlotte Anderson, Paula Blomquist, David Simons, Alessandra Lochen, Christopher I. Jarvis, Natalie Groves, Fernando Capelastegui, Joe Flannagan, Asad Zaidi, Cong Chen, Christopher Rawlinson, Gareth J. Hughes, Dimple Chudasama, Sophie Nash, Simon Thelwall, Jamie Lopez-Bernal, Gavin Dabrera, Andre Charlett, Meaghan Kall, Theresa Lamagni
Summary: A study in England compared the transmission differences between the Omicron variant and the Delta variant of SARS-CoV-2. The study found that Omicron had higher secondary attack rates in households (15.0% vs. 10.8%) and non-households (8.2% vs. 3.7%) compared to Delta. The effectiveness of vaccination in reducing transmission risk was lower for Omicron compared to Delta.
EPIDEMIOLOGY AND INFECTION
(2023)
Article
Immunology
Asad Zaidi, Ross Harris, Jennifer Hall, Sarah Woodhall, Nick Andrews, Kevin Dunbar, Jamie Lopez-Bernal, Gavin Dabrera
Summary: A study in England assessed the effects of receiving 2 doses of the SARS-CoV-2 vaccine on household transmission. The study found that contacts of 2-dose vaccinated case-patients had a lower risk of becoming secondary case-patients compared to contacts of unvaccinated case-patients. The reduction of onward transmission varied depending on the vaccine type and the time since the second dose.
EMERGING INFECTIOUS DISEASES
(2023)
Article
Infectious Diseases
Anika Singanayagam, Catherine Moore, Susannah Froude, Cristina Celma, Julia Stowe, Erjola Hani, Khuen Foong Ng, Peter Muir, Marion Roderick, Simon Cottrell, David F. Bibby, Barry Vipond, Sophie Gillett, Peter J. Davis, Jack Gibb, Mai Barry, Phillippa Harris, Frances Rowley, Jiao Song, Ananda Giri Shankar, Danielle Mcmichael, Jonathan M. Cohen, Abirami Manian, Ciaran Harvey, Louise Shaw Primrose, Stefanie Wilson, Declan T. Bradley, Karthik Paranthaman, Stuart Beard, Maria Zambon, Mary Ramsay, Vanessa Saliba, Shamez Ladhani, Christopher Williams
Summary: Enteroviruses commonly cause seasonal childhood infections, with most cases being mild and self-limiting. However, severe disease can occur in neonates, including the rare complication of myocarditis. This article reports on a cluster of 20 severe neonatal enteroviral myocarditis cases caused by coxsackie B viruses in the United Kingdom. Sixteen cases required critical care support and two resulted in death. Enterovirus PCR on whole blood was found to be the most sensitive diagnostic test. The aim of this article is to raise awareness among paediatricians, laboratories, and public health specialists.
Article
Immunology
Helen Campbell, Jamie Lopez Bernal, Antoaneta Bukasa, Nick Andrews, Elaine Baker, Polly Maunder, Anne Marie Winstone, Mary Ramsay, Christopher Verity, Kevin Brown
Summary: New cases of pediatric and adult subacute sclerosing panencephalitis between 1996 and 2020 were reported based on an established UK registry, which showed no evidence of under-ascertainment and used a separate pediatric surveillance system. After 15 years without any domestically acquired cases, 3 cases emerged in 2017 following an increase in measles. Modeling indicated that this was consistent with the number of measles notifications, underreporting of laboratory-confirmed measles, or an increased risk of subacute sclerosing panencephalitis.
PEDIATRIC INFECTIOUS DISEASE JOURNAL
(2023)
Article
Health Care Sciences & Services
Hester Allen, Amoolya Vusirikala, Joe Flannagan, Katherine A. Twohig, Asad Zaidi, Dimple Chudasama, Theresa Lamagni, Natalie Groves, Charlie Turner, Christopher Rawlinson, Jamie Lopez-Bernal, Ross Harris, Andre Charlett, Gavin Dabrera, Meaghan Kall
Summary: This study indirectly assessed the differences in transmissibility between the SARS-CoV-2 Delta variant and the previously dominant Alpha variant. The results showed that the Delta variant had a higher rate of household transmission, potentially explaining its success in displacing the Alpha variant as the dominant strain in England. Understanding the transmissibility of this variant is important for informing international infection prevention and control policies.
LANCET REGIONAL HEALTH-EUROPE
(2022)
Article
Medicine, General & Internal
N. Andrews, J. Stowe, F. Kirsebom, S. Toffa, T. Rickeard, E. Gallagher, C. Gower, M. Kall, N. Groves, A-M O'connell, D. Simons, P. B. Blomquist, A. Zaidi, S. Nash, N. Iwani Binti Abdul Aziz, S. Thelwall, G. Dabrera, R. Myers, G. Amirthalingam, S. Gharbia, J. C. Barrett, R. Elson, S. N. Ladhani, N. Ferguson, M. Zambon, C. N. J. Campbell, K. Brown, S. Hopkins, M. Chand, M. Ramsay, J. Lopez Bernal
Summary: A large case-control study in England found that immunity to the Omicron variant was very low and less than that to the Delta variant 20 weeks after the second vaccine dose, regardless of the initial vaccine type. A booster dose of one of the mRNA vaccines improved efficacy to approximately 65%, but protection waned over a 10-week period.
NEW ENGLAND JOURNAL OF MEDICINE
(2022)
