Article
Immunology
Arun Kumar Arunachalam, Madhavi Maddali, Fouzia N. Aboobacker, Anu Korula, Biju George, Vikram Mathews, Eunice Sindhuvi Edison
Summary: This study characterized the clinical and genetic spectrum of PID patients in India, identifying BTK and IL12RB1 as the most common mutated genes, with autosomal recessive and X-linked recessive inheritance in 51.6% and 23.7% of patients, respectively. MSMD and IL12RB1 mutations were more common in this population compared to the Western world and the Middle East.
JOURNAL OF CLINICAL IMMUNOLOGY
(2021)
Article
Immunology
Xiaolei Zhang, Yixue Wang, Daly Pen, Jing Liu, Qinhua Zhou, Yao Wang, Huaqing Zhong, Tingyan Liu, Weiming Chen, Bingbing Wu, Yang Zhou, Chuanqing Wang, Xiangyu Li, Fangyou Yu, Xiaochuan Wang, Guoping Lu, Gangfeng Yan
Summary: This study reports a rare case of MHC II deficiency in a 117-day-old boy, whose diagnosis was obtained mainly through NGS. The case highlights the potential importance of NGS in diagnosing unexplained infection and illness, and the accuracy of pathogen identification can be improved by combining conventional detection techniques with mNGS.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2023)
Article
Immunology
Wenjing Tang, Yu Zhang, Chong Luo, Lina Zhou, Zhiyong Zhang, Xuemei Tang, Xiaodong Zhao, Yunfei An
Summary: This study evaluated the utility of mNGS for detecting pathogens in patients with PID, demonstrating its superiority over conventional methods in pathogen identification, especially in detecting rare opportunistic pathogens. Compared to traditional methods, mNGS can provide faster pathogen diagnosis, enabling clinicians to make more timely and targeted therapeutic decisions.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Immunology
Jessica Rojas-Restrepo, Andres Caballero-Oteyza, Katrin Huebscher, Hanna Haberstroh, Manfred Fliegauf, Baerbel Keller, Robin Kobbe, Klaus Warnatz, Stephan Ehl, Michele Proietti, Bodo Grimbacher
Summary: Predominantly antibody deficiencies (PAD) are a diverse group of disorders characterized by dysfunctional antibody production, low immunoglobulin levels in serum and impaired vaccine responses. Timely diagnosis is crucial in improving disease prognosis for patients with PAD, whose clinical presentation varies.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Allergy
Amarilla B. Mandola, Nigel Sharfe, Zahra Nagdi, Harjit Dadi, Linda Vong, Daniele Merico, Bo Ngan, Brenda Reid, Chaim M. Roifman
Summary: A novel homozygous mutation in the NFKB1 gene was identified in a patient with severe combined immunodeficiency, affecting T- and B-cell maturation and function. This mutation blocked the nuclear factor-kappa B pathway signaling, leading to aberrations in the immune system.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Hye Lim Choi, Ha Rim Yang, Ha Gyeong Shin, Kyusang Hwang, Ji Woong Kim, Ji Hyun Lee, Taehoon Ryu, Yushin Jung, Sukmook Lee
Summary: Antibody phage display is a crucial technology for discovering and developing target-specific monoclonal antibodies. This study constructed a large human combinatorial single-chain variable fragment library with high diversity, which can be used for the rapid development of recombinant human monoclonal antibodies for therapeutic and diagnostic applications.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Lael Werner, Chen Dor, Naomi Salamon, Meital Nagar, Dror S. Shouval
Summary: Immunological memory is orchestrated by T and B lymphocytes, with billions of unique T and B cell clones capable of specific antigen binding and subsequent immune responses. Next-generation sequencing technology allows in-depth analysis of immune repertoire, revealing significant changes in different diseases. This technique has the potential for discovering novel biomarkers, risk stratification, and precision medicine.
JOVE-JOURNAL OF VISUALIZED EXPERIMENTS
(2021)
Article
Microbiology
Hongliu Cai, Juan Hu, Lingtong Huang, Chunhua Gao, Mi Xu, Yuzhi Gao, Tao Sun, Xueling Fang
Summary: This study reveals that B cells in COVID-19 patients can recognize the virus and produce clonal expansion. Higher clonality is associated with better outcomes after treatment. Three common motifs were found in all patients, which may be used in vaccine development.
FRONTIERS IN MICROBIOLOGY
(2022)
Article
Immunology
Lauren M. Walker, Andrea R. Shiakolas, Rohit Venkat, Zhaojing Ariel Liu, Steven Wall, Nagarajan Raju, Kelsey A. Pilewski, Ian Setliff, Amyn A. Murji, Rebecca Gillespie, Nigel A. Makoah, Masaru Kanekiyo, Mark Connors, Lynn Morris, Ivelin S. Georgiev
Summary: The development of novel technologies for discovering human monoclonal antibodies has been extremely valuable in combating infectious diseases. LIBRA-seq with epitope mapping is a next-generation sequencing technology that can determine residue-level epitopes for thousands of single B cells simultaneously, making it an efficient tool for high-throughput identification of antibodies against specific antigen epitopes.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Allergy
Georgios Sogkas, Natalia Dubrowinskaja, Katharina Schuetz, Lars Steinbrueck, Jasper Goetting, Nicolaus Schwerk, Ulrich Baumann, Bodo Grimbacher, Torsten Witte, Reinhold E. Schmidt, Faranaz Atschekzei
Summary: Targeted next-generation sequencing identified definite or predicted pathogenic variants in 15.3% of patients with primary immunodeficiency, with the highest diagnostic rate observed among patients with combined immunodeficiency or immune dysregulation. This diagnostic approach has potential to impact therapeutic decision-making, especially for patients with genetic basis influencing disease pathophysiology.
INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY
(2022)
Article
Immunology
Ying Wang, Xiao Xiao, Shipeng Chen, Chenjun Huang, Jun Zhou, Erhei Dai, Ya Li, Lijuan Liu, Xianzhang Huang, Zhiyuan Gao, Chuanyong Wu, Meng Fang, Chunfang Gao
Summary: This study aimed to explore the molecular mechanism of the coexistence of hepatitis B surface antigen (HBsAg) and hepatitis B surface antibody (HBsAb) serological pattern via intensive characterization of HBV s gene in both chronic hepatitis B (CHB) and hepatocellular carcinoma (HCC) patients. Results show significant differences between HBsAg+/HBsAb+ and HBsAg+/HBsAb- in both CHB and HCC patients in terms of missense mutations, stop codon mutation changes, clustering, and random forest models. Furthermore, the study indicates that point mutations and quasispecies diversities of HBV s gene could alter the major hydrophilic region (MHR) antigenicity and CTL Se immunogenicity, contributing to different features of concurrent HBsAg+/HBsAb+ in HCC and CHB.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Immunology
Manabu Wakamatsu, Daiei Kojima, Hideki Muramatsu, Yusuke Okuno, Shinsuke Kataoka, Fumiko Nakamura, Yoshimi Sakai, Ikuya Tsuge, Tsuyoshi Ito, Kazuto Ueda, Akiko Saito, Eiji Morihana, Yasuhiko Ito, Naoki Ohashi, Makito Tanaka, Taihei Tanaka, Seiji Kojima, Yoko Nakajima, Tetsuya Ito, Yoshiyuki Takahashi
Summary: By combining TREC and TREC/KREC NBS programs with diagnostic NGS analysis, this study provides a useful method for early identification and rapid molecular evaluation of not only SCID but also different non-SCID PIDs.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Article
Oncology
Giuseppe Visani, Maryam Etebari, Fabio Fuligni, Antonio Di Guardo, Alessandro Isidori, Federica Loscocco, Stefania Paolini, Mohsen Navari, Pier Paolo Piccaluga
Summary: Using next generation sequencing, this study found that genetic lesions characteristic of primary myelofibrosis occur at an early stage of hematopoietic stem cell differentiation. This sheds light on the complex transformation of pluripotent precursors in the development of the disease.
Article
Biochemistry & Molecular Biology
Minyoung Park, Teresa Nunez de Villavicencio Diaz, Victoria Lange, Lin Wu, Thierry Le Bihan, Bin Ma
Summary: This study utilized NGS technology to comprehensively analyze the immune repertoires of immunoglobulin heavy and light chains in four healthy sheep. The results revealed biased gene usage and significant diversity, which will contribute to further refinement of therapeutic antibody drugs derived from sheep and provide a foundation for future studies on immune repertoires in health and disease.
MOLECULAR IMMUNOLOGY
(2023)
Article
Virology
Vladimir Loukachov, Karel A. van Dort, Louis Jansen, Henk W. Reesink, Neeltje A. Kootstra
Summary: A novel Hepatitis B Virus (HBV) encoded miRNA, HBV-miR-6, was identified and validated in liver tissue from chronic hepatitis B (CHB) patients. Its expression was correlated with hepatic HBV-DNA and plasma HBsAg levels, suggesting a potential role in viral excretion or particle formation.
Article
Immunology
Michael J. Carter, Meeru Gurung, Bhishma Pokhrel, Sanjeev Man Bijukchhe, Sudhir Karmacharya, Bijay Khadka, Anju Maharjan, Suraj Bhattarai, Swosti Shrestha, Bibek Khadka, Animesh Khulal, Sunaina Gurung, Bijaya Dhital, Krishna G. Prajapati, Imran Ansari, Ganesh P. Shah, Brian Wahl, Rama Kandasamy, Rahul Pradhan, Sarah Kelly, Merryn Voysey, David R. Murdoch, Neelam Adhikari, Stephen Thorson, Dominic Kelly, Shrijana Shrestha, Andrew J. Pollard
Summary: Invasive bacterial diseases such as Salmonella enterica serovar Typhi and Streptococcus pneumoniae are major pathogens identified in children in Kathmandu, Nepal. Most cases of invasive pneumococcal disease were found among children aged 5 and above. The use of antigen and PCR testing in cerebrospinal fluid improves sensitivity for identifying invasive bacterial disease pathogens.
PEDIATRIC INFECTIOUS DISEASE JOURNAL
(2022)
Article
Immunology
Else M. Bijker, Elizabeth A. L. Bateman, Johannes Truck, Smita Patel, Dominic F. Kelly
Summary: This study retrospectively investigated 68 children with invasive pneumococcal disease (IPD) and found clinically relevant abnormal immunological findings in 4 out of 51 children (8%). The results support the recommendation to perform immunological investigations in children with IPD for necessary preventive measures and follow-up.
PEDIATRIC INFECTIOUS DISEASE JOURNAL
(2022)
Article
Multidisciplinary Sciences
Alexander J. Mentzer, Nicole Brenner, Naomi Allen, Thomas J. Littlejohns, Amanda Y. Chong, Adrian Cortes, Rachael Almond, Michael Hill, Simon Sheard, Gil McVean, Rory Collins, Adrian V. S. Hill, Tim Waterboer
Summary: The authors designed a multiplex serology platform to measure quantitative antibody responses against 20 infectious agents and confirmed their associations with sociodemographic characteristics, HLA genetic variants, and disease outcomes. The findings provide valuable insights into host-pathogen-disease relationships.
NATURE COMMUNICATIONS
(2022)
Article
Immunology
Pauline Versteegen, Alex-Mikael Barkoff, Marta Valente Pinto, Jan Van De Kasteele, Aapo Knuutila, Sagida Bibi, Lia De Rond, Johanna Teraesjaervi, Katherine Sanders, Mary-lene De Zeeuw-Brouwer, Raakel Luoto, Hinke Ten Hulscher, Elizabeth A. Clutterbuck, Elisabeth A. M. Sanders, Jussi Mertsola, Guy A. M. Berbers, Qiushui He, Dominic F. Kelly, Anne-Marie Buisman
Summary: This study aimed to assess the effectiveness of acellular pertussis vaccine by measuring the activation of memory B cells. The results showed that the frequencies of pertussis-specific memory B cells increased after vaccination in all age groups and remained elevated after one year. However, the activation of antigen-specific memory B cells seemed weaker in older adults. Additionally, the presence of circulating memory B cells at baseline had a positive impact on memory B cell responses.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Infectious Diseases
Rama Kandasamy, Stephanie Lo, Meeru Gurung, Michael J. Carter, Rebecca Gladstone, John Lees, Sonu Shrestha, Stephen Thorson, Sanjeev Bijukchhe, Madhav C. Gautam, Reetu Shrestha, Sunaina Gurung, Bibek Khadka, Lesley McGee, Robert F. Breiman, David R. Murdoch, Dominic F. Kelly, Shrijana Shrestha, Stephen D. Bentley, Andrew J. Pollard
Summary: Pneumococcal disease is a major cause of bacterial pneumonia and invasive bacterial disease in children globally. This study used whole-genome sequencing to analyze strains of pneumococcus collected in Kathmandu, Nepal from 2005 to 2018. The research identified a strain, GPSC9, with high disease prevalence, multidrug resistance, and the ability to switch to an unencapsulated phenotype.
Editorial Material
Pediatrics
Veronika Baghin, Seraina Prader, Selma Sirin, Jana Pachlopnik Schmid, Johannes Trueck
ARCHIVES OF DISEASE IN CHILDHOOD-EDUCATION AND PRACTICE EDITION
(2023)
Correction
Multidisciplinary Sciences
Camila H. Coelho, Wai Kwan Tang, Martin Burkhardt, Jacob D. Galson, Olga Muratova, Nichole D. Salinas, Thiago Luiz Alves e Silva, Karine Reiter, Nicholas J. MacDonald, Vu Nguyen, Raul Herrera, Richard Shimp, David L. Narum, Miranda Byrne-Steele, Wenjing Pan, Xiaohong Hou, Brittany Brown, Mary Eisenhower, Jian Han, Bethany J. Jenkins, Justin Y. A. Doritchamou, Margery G. Smelkinson, Joel Vega-Rodriguez, Johannes Truck, Justin J. Taylor, Issaka Sagara, Sara A. Healy, Jonathan P. Renn, Niraj H. Tolia, Patrick E. Duffy
NATURE COMMUNICATIONS
(2022)
Review
Medicine, General & Internal
Rachael S. Barr, Simon B. Drysdale, Mary Boullier, Hermione Lyall, Lucy Cook, Graham P. Collins, Dominic F. Kelly, Lorna Phelan, Graham P. Taylor
Summary: HTLV-1 is a human retrovirus that is endemic in certain regions worldwide, primarily transmitted sexually and from mother-to-child during the perinatal period. Preventing mother-to-child transmission should be a priority, and diagnosis and screening during pregnancy should be considered.
FRONTIERS IN MEDICINE
(2022)
Letter
Immunology
Maarja Soomann, Seraina Prader, Jana Pachlopnik Schmid, Tayfun Gungor, Johannes Truck
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Article
Immunology
Sophie Strasser, Christa Relly, Christoph Berger, Johannes Truck
Summary: A retrospective analysis found that a substantial proportion of children with severe bacterial infections (SBIs) had immune function impairments. Routine immunological testing can help identify these abnormalities and optimize preventive measures to avoid future SBI episodes.
JOURNAL OF INFECTIOUS DISEASES
(2023)
Article
Medicine, Research & Experimental
Henderson Zhu, Irina Chelysheva, Deborah L. Cross, Luke Blackwell, Celina Jin, Malick M. Gibani, Elizabeth Jones, Jennifer Hill, Johannes Truck, Dominic F. Kelly, Christoph J. Blohmke, Andrew J. Pollard, Daniel O'Connor
Summary: This study compares the immune responses and protection effects of two typhoid vaccines, ViPS and ViTT, through the analysis of genomic data. The study reveals distinct molecular features between the two vaccines, mainly related to humoral immune responses. Furthermore, the study identifies molecular correlates of protection against S. Typhi infection. These findings have important implications for future vaccine design and assessment.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Medicine, General & Internal
Peter W. Horby, Jonathan R. Emberson, Marion Mafham, Mark Campbell, Leon Peto, Guilhenne Pessoa-Amorim, Enti Spata, Natalie Staplin, Catherine Lowe, David R. Chadwick, Christopher Brightling, Richard Stewart, Paul Collini, Abdul Ashish, Christopher A. Green, Ben Prudon, Timothy Felton, Anthony Kerry, J. Kenneth Baillie, Maya H. Such, Jeremy Day, Saul N. Faust, Thomas Jaki, Katie Jeffery, Edmund Juszczak, Marian Knight, Wei Shen Lim, Alan Montgomery, Andrew Mumford, Kathryn Rowan, Guy Thwaites, Richard Haynes, Martin J. Landray
Summary: This study evaluated the use of baricitinib in the treatment of patients hospitalized with COVID-19. The results showed that baricitinib significantly reduced the risk of death, although the effect size was slightly smaller than previous trials. Overall evidence suggests that JAK inhibitors can reduce mortality in hospitalized COVID-19 patients by about 20%.
Article
Public, Environmental & Occupational Health
Shrijana Shrestha, Meeru Gurung, Puja Amatya, Sanjeev Bijukchhe, Anindya Sekhar Bose, Michael J. Carter, Madhav C. Gautam, Sunaina Gurung, Jason Hinds, Rama Kandasamy, Sarah Kelly, Bibek Khadka, Pratistha Maskey, Yama F. Mujadidi, Peter J. O'Reilly, Bhishma Pokhrel, Rahul Pradhan, Ganesh P. Shah, Sonu Shrestha, Brian Wahl, Katherine L. O'Brien, Maria Deloria Knoll, David R. Murdoch, Dominic F. Kelly, Stephen Thorson, Merryn Voysey, Andrew J. Pollard
Summary: This study investigated the impact of introducing PCV10 vaccine on pneumococcal carriage and disease in children in Nepal. The results showed a reduction in vaccine serotype carriage in both healthy children and children under 2 years with pneumonia. However, there was an increase in carriage of serotypes 19A and 3, emphasizing the importance of continued surveillance.
LANCET GLOBAL HEALTH
(2022)