Article
Immunology
Sharat Chandra, Shanmuganathan Chandrakasan, Blachy J. Davila Saldana, Jack J. Bleesing, Michael B. Jordan, Ashish R. Kumar, Michael S. Grimley, Christa Krupski, Stella M. Davies, Pooja Khandelwal, Rebecca A. Marsh
Summary: The adapted busulfan and fludarabine regimen for patients undergoing allogeneic HCT for primary immune deficiencies showed low toxicity, low incidence of GVHD, durable myeloid engraftment, and excellent survival outcomes.
JOURNAL OF CLINICAL IMMUNOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Juanjuan Zhou, Quanmei Yan, Chengcheng Tang, Yuan Liao, Quanjun Zhang, Xiaomin Wang, Xiaoqing Zhou, Liangxue Lai, Qingjian Zou
Summary: A WAS knockout rabbit model with symptoms similar to WAS patients has been successfully generated, providing a new valuable tool for preclinical trials of WAS treatment.
Article
Hematology
Sergei I. Obydennyi, Sofya A. Kuznetsova, Olga S. Fedyanina, Anna Khoreva, Kirill Voronin, Alexey V. Mazurov, Anna A. Glukhova, Elena O. Artemenko, Fazoil I. Ataullakhanov, Alexey A. Maschan, Galina A. Novichkova, Anna Shcherbina, Mikhail A. Panteleev
Summary: Wiskott-Aldrich syndrome (WAS) is a genetic disorder caused by mutations in the WAS gene, leading to defects in haematopoietic/immune cells. Recent studies have shown increased death of platelets and lymphocytes in WAS patients. This study investigates the viability and morphology of megakaryocytes (MKs) in WAS patients compared to healthy controls.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Editorial Material
Hematology
Susan E. Prockop
Summary: In this article, the authors demonstrate that a standardized treatment approach combined with novel composite end points can establish a standard of care for boys with this rare nonmalignant disorder even in the absence of prospective trials.
Article
Immunology
Caroline Khanna, Carole Le Coz, Courtney Vaccaro, Piyush Pillarisetti, Ainsley V. C. Knox, Andrew Sy, Edward M. Behrens, David Buchbinder, Neil Romberg
Summary: This study reports a novel germline frameshifting mutation in a WAS patient, leading to the loss of expression of WASP Delta CA. Deep sequencing and protein degradation analysis revealed a variety of genetic, epigenetic, and proteasomal strategies employed by patient lymphocytes to avoid expressing WASP Delta CA.
JOURNAL OF CLINICAL 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
Jiali Jiang, Junli Zhou, Manlv Wei, Sanjeev Singh, Lauriane Nikuze, Lifang Huang, Yuping Li, Jinxia Jiang, Hongying Wei
Summary: Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficiency disease characterized by thrombocytopenia, eczema, immunodeficiency, and increased risk of malignant tumors, with two main types determined by the severity of mutations. This article reviewed and analyzed clinical and immune characteristics of five unrelated Chinese families with WAS, identifying new mutations and furthering understanding of the disease.
SCANDINAVIAN JOURNAL OF IMMUNOLOGY
(2022)
Article
Immunology
Katherine E. Herman, Takeshi Yoshida, Angela Hughson, Alex Grier, Steven R. Gill, Lisa A. Beck, Deborah J. Fowell
Summary: Wiskott-Aldrich Syndrome is characterized by recurrent infections, thrombocytopenia, and eczema. WASp-deficient mice show dysregulated immune homeostasis and barrier dysfunction in the skin, with increased leukocyte accumulation and skin dysbiosis. IL-17 plays a critical role in skin immune infiltration and elevation of Type 2 and Type 17 cytokines.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Multidisciplinary Sciences
Nikki Agarwal, Divyaswathi Citla Sridhar, Sindhoosha Malay, Nirav Patil, Anjali Shekar, Sanjay Ahuja, Jignesh Dalal
Summary: The study showed that transplant is the main contributor to healthcare utilization in WAS patients, and there are healthcare disparities based on race and socioeconomic status. Non-transplant patients were more likely to have lymphomas, ulcerative colitis, and autoimmune complications.
SCIENTIFIC REPORTS
(2021)
Article
Cell Biology
Fangfang Liang, Cheng Peng, Xianze Luo, Linlin Wang, Yanyan Huang, Le Yin, Luming Yue, Jun Yang, Xiaodong Zhao
Summary: This study utilized single-cell RNA sequencing to analyze the immune cells in the spleen of WAS-KO mice. Various immune cell types and key genes were identified, laying a foundation for further research on WAS and gene therapies.
CELLULAR IMMUNOLOGY
(2023)
Article
Immunology
Yoji Sasahara, Taizo Wada, Tomohiro Morio
Summary: Patients with classical Wiskott-Aldrich syndrome (WAS) and leukocyte adhesion deficiency (LAD) type 1 showed lower levels of Th1 and Th2 cytokine production following exposure to antigen-presenting cells, with distinct clinical symptoms associated with each disease.
CLINICAL IMMUNOLOGY
(2022)
Article
Rheumatology
Hiroyuki Nakamura, Tsutomu Tanaka, Thomas Pranzatelli, Youngmi Ji, Hongen Yin, Paola Perez, Sandra A. Afione, Shyh-Ing Jang, Corrine Goldsmith, Chang Yu Zheng, William D. Swaim, Blake M. Warner, Noriyuki Hirata, Masayuki Noguchi, Tatsuya Atsumi, John A. Chiorini
Summary: The study demonstrates that altering lysosome activity through the expression of LAMP3 in salivary gland epithelial cells can initiate an autoimmune response similar to SS, resulting in the production of autoantibodies and salivary dysfunction.
ANNALS OF THE RHEUMATIC DISEASES
(2021)
Article
Hematology
Anna Khoreva, Irina Abramova, Elena Deripapa, Yulia Rodina, Anna Roppelt, Dmitry Pershin, Sergey Larin, Kirill Voronin, Alexey Maschan, Galina Novichkova, Anna Shcherbina
Summary: This study demonstrates that romiplostim treatment can effectively increase platelet counts and reduce the risk of bleeding in WAS patients, with a significant decrease in hemorrhagic events even in non-responder group after the first month of treatment. The treatment responses tend to be durable and stable over time, with no significant fluctuations in platelet counts.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
Review
Immunology
Amy P. Hsu
Summary: This study investigates the genotype-phenotype correlations in patients with mutations in the Wiskott-Aldrich syndrome (WAS) and RAC2 genes, highlighting the functional protein domains, how mutations alter protein interactions, and how specific mutations can lead to different phenotypes.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY
(2023)
Review
Immunology
Asma Naseem, Zohar Steinberg, Alessia Cavazza
Summary: This review discusses the progress and challenges of using gene editing for the treatment of primary immunodeficiency diseases (PIDs), with a special focus on Wiskott-Aldrich syndrome. Gene editing has emerged as a potential alternative to conventional treatments such as transplantation and gene therapy, and it has already entered clinical trials for life-threatening diseases.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Spectroscopy
Erika Ponzini, Carlo Santambrogio, Antonella De Palma, Pierluigi Mauri, Silvia Tavazzi, Rita Grandori
Summary: This review focuses on the progress and methods of tear proteomics as a potential source of biomarkers, emphasizing on applications to biomarker discovery and critical steps of the experimental pipeline. Despite limited studies, tear quantitative proteomics offer unique contributions to personalized approaches in therapy and diagnosis.
MASS SPECTROMETRY REVIEWS
(2022)
Article
Biology
Dario Di Silvestre, Giulia Passignani, Rossana Rossi, Marina Ciuffo, Massimo Turina, Gianpiero Vigani, Pier Luigi Mauri
Summary: A newly discovered plant mitovirus activates metabolic processes in quinoa to help them withstand drought, providing a new perspective for breeding crop plants. The study found changes in mitochondrial protein expression in infected plants, with up-regulation of functional modules involved in stress response and redox homeostasis, suggesting a potential mechanism for the observed higher tolerance to drought in infected plants. Further in-depth functional studies are needed to establish a causative link.
Article
Cell Biology
Marc Descatoire, Remi Fritzen, Samuel Rotman, Genevieve Kuntzelman, Xavier Charles Leber, Stephanie Droz-Georget, Adrian J. Thrasher, Elisabetta Traggiai, Fabio Candotti
Summary: A main feature of Wiskott-Aldrich syndrome is increased susceptibility to autoimmunity, with WAS protein playing a key role in controlling peripheral tolerance in germinal center B cells, leading to the development of self-reactive antibodies and kidney pathology.
Article
Biology
Shoji Imamichi, Lichao Chen, Tasuku Ito, Ying Tong, Takae Onodera, Yuka Sasaki, Satoshi Nakamura, PierLuigi Mauri, Yu Sanada, Hiroshi Igaki, Yasufumi Murakami, Minoru Suzuki, Jun Itami, Shinichiro Masunaga, Mitsuko Masutani
Summary: This study investigated whether high mobility group box 1 (HMGB1) could serve as a potential biomarker for evaluating the therapeutic response during boron neutron capture therapy (BNCT). The results showed that there was an increased release of extracellular HMGB1 in cancer cells 24 hours after BNCT irradiation, compared to gamma-ray irradiation. High levels of plasma HMGB1 were also detected in a xenograft mouse model at 3 days post-BNCT irradiation, even when the size of the tumor decreased. These findings suggest that HMGB1 could be a potential biomarker for evaluating the therapeutic efficacy of BNCT.
Article
Oncology
Davide Perico, Dario Di Silvestre, Shoji Imamichi, Yu Sanada, Mitsuko Masutani, Pier Luigi Mauri
Summary: Systems biology approach, particularly proteomics, plays a crucial role in the study and application of complex therapies like Boron Neutron Capture Therapy (BNCT). Proteomics provides insights into the mechanisms and effects of BNCT, identifies potential biomarkers, and contributes to the development of new boron carriers for optimized treatment.
CANCER BIOTHERAPY AND RADIOPHARMACEUTICALS
(2023)
Article
Clinical Neurology
Alessia Giossi, Silvia Clara Giliani, Massimo Gamba, Paola Toniati, Mauro Magoni, Alessandro Pezzini
Summary: This article describes a case of an adult patient with recurrent acute ischemic strokes due to cerebral small vessel disease (cSVD), without any other phenotypic manifestations. Targeted next-generation sequencing detected a pathogenic missense variant in the ADA2 gene (c.139G > A, p.G47R), consistent with the diagnosis of adenosine deaminase 2 deficiency syndrome. The findings highlight the diagnostic potential of next-generation sequencing for identifying genetic causes in stroke patients with atypical presentations of cSVD.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Biology
Valentina Murtaj, Silvia Penati, Sara Belloli, Maria Foti, Angela Coliva, Angela Papagna, Cecilia Gotti, Elisa Toninelli, Remy Chiaffarelli, Stefano Mantero, Susanna Pucci, Michela Matteoli, Maria Luisa Malosio, Rosa Maria Moresco
Summary: The study found that male mice exposed to a high fat diet are more susceptible to metabolic changes compared to female mice, showing faster and higher weight gain, elevated cholesterol and liver enzyme levels, and more prominent brain inflammation.
COMMUNICATIONS BIOLOGY
(2022)
Article
Cell Biology
Lara Toffali, Beatrice D'Ulivo, Cinzia Giagulli, Alessio Montresor, Elena Zenaro, Massimo Delledonne, Marzia Rossato, Barbara Iadarola, Andrea Sbarbati, Paolo Bernardi, Gabriele Angelini, Barbara Rossi, Nicola Lopez, Wolfgang A. Linke, Andreas Unger, Dario Di Silvestre, Louise Benazzi, Antonella De Palma, Sara Motta, Gabriela Constantin, Pierluigi Mauri, Carlo Laudanna
Summary: Response to multiple microenvironmental cues and resilience to mechanical stress are essential features of trafficking leukocytes. Titin (TTN) plays an unexpected role in the regulation of mechanisms of lymphocyte trafficking. It governs the morphogenesis of plasma membrane microvilli, controls chemotaxis and integrin activation, and ensures T lymphocyte survival in the blood stream. LTTN1 is a critical and versatile housekeeping regulator of T lymphocyte trafficking.
Article
Cell Biology
Davide Perico, Ying Tong, Lichao Chen, Shoji Imamichi, Yu Sanada, Masamichi Ishiai, Minoru Suzuki, Mitsuko Masutani, Pierluigi Mauri
Summary: Boron neutron capture therapy (BNCT) is a selective radiotherapy that uses nuclear reactions to induce cell death in cancer cells. Proteomic analysis of extracellular vesicles (EVs) treated with BNCT identified proteins associated with apoptosis, DNA repair, and inflammatory response. The results highlight the potential of proteomics in identifying biomarkers and understanding the mechanisms of BNCT.
Article
Engineering, Manufacturing
Rosaria Rovetta, Paola Ginestra, Rosalba Monica Ferraro, Keren Zohar-Hauber, Silvia Giliani, Elisabetta Ceretti
Summary: Laser powder bed fusion, especially selective laser melting, is used to produce near-net-shaped engineering components for biomedical applications, particularly in orthopaedics. Ti6Al4V is commonly used for orthopaedic implants due to its excellent mechanical qualities, high biocompatibility, and corrosion resistance. Surface modification is used to improve functionality and performance, with post-processing techniques such as anodization and passivation having an impact on osteoblast attachment and mineralization.
JOURNAL OF MANUFACTURING AND MATERIALS PROCESSING
(2023)
Article
Oncology
Saniya Arfin, Dhruv Kumar, Andrea Lomagno, Pietro Luigi Mauri, Dario Di Silvestre
Summary: This study reveals gene-miRNA interactions and topological biomarkers driving the development of head and neck squamous cell carcinoma (HNSCC) through comprehensive evaluation of gene and miRNA profiles. The molecular interactions activate genes promoting cell cycle and proliferation, and inactivate suppressive genes. Genes including VEGFA, EMP1, PPL, KRAS, MET, TP53, MMPs, and HOXs, and miRNAs including mir-6728 and mir-99a emerge as key players in HNSCC tumorigenesis.
Article
Oncology
Lorenzo Magrassi, Francesca Brambilla, Raffaello Vigano, Dario Di Silvestre, Louise Benazzi, Giuseppe Bellantoni, Gian Marco Danesino, Sergio Comincini, Pierluigi Mauri
Summary: Cystic formation in human primary brain tumors is a relatively rare event that varies depending on the histotype of the tumor. The composition of cystic fluid has been characterized in tumor resection samples, but there is no information on the evolution of cystic content. The proteome of cystic fluid obtained from different time points in the same tumor remained stable, and there are tumor-specific pathways that contribute to tumor-host interactions.
Article
Astronomy & Astrophysics
Alex Andersson, Chris Lintott, Rob Fender, Joe Bright, Francesco Carotenuto, Laura Driessen, Mathilde Espinasse, Kelebogile Gasealahwe, Ian Heywood, Alexander J. van der Horst, Sara Motta, Lauren Rhodes, Evangelia Tremou, David R. A. Williams, Patrick Woudt, Xian Zhang, Steven Bloemen, Paul Groot, Paul Vreeswijk, Stefano Giarratana, Payaswini Saikia, Jonas Andersson, Lizzeth Ruiz Arroyo, Loic Baert, Matthew Baumann, Wilfried Domainko, Thorsten Eschweiler, Tim Forsythe, Sauro Gaudenzi, Rachel Ann Grenier, Davide Iannone, Karla Lahoz, Kyle J. Melville, Marianne De Sousa Nascimento, Leticia Navarro, Sai Parthasarathi, Piilonen Piilonen, Najma Rahman, Jeffrey Smith, B. Stewart, Newton Temoke, Chloe Tworek, Isabelle Whittle
Summary: The newest generation of radio telescopes can survey large areas with high sensitivity and cadence, producing data volumes that require new methods to understand the transient sky. The first citizen science project dedicated to commensal radio transients, using data from the MeerKAT telescope, discovered 142 new variable sources and estimated that at least 2.1% of radio sources are varying at the sampled cadence and sensitivity. The success of volunteer engagement and scientific merit warrants the continued development of the project and the use of volunteer classifications to develop machine learning techniques for finding transients.
MONTHLY NOTICES OF THE ROYAL ASTRONOMICAL SOCIETY
(2023)