☆ 4.4 Letter

ITK Deficiency: How Can EBV Be Treated Before Lymphoma?

PEDIATRIC BLOOD & CANCER (2015)

期刊

PEDIATRIC BLOOD & CANCER

卷 62, 期 12, 页码 2247-2248

出版社

WILEY-BLACKWELL

DOI: 10.1002/pbc.25648

关键词

-

类别

Oncology Hematology Pediatrics

向作者/读者索取更多资源

Protocol

Reagent

作者

我是这篇论文的作者

点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.4

评分不足

次要评分

新颖性

-

重要性

-

科学严谨性

-

评价这篇论文

推荐

Editorial Material Biochemistry & Molecular Biology

How kindness can be contagious in healthcare

Weiming Tang, Dan Wu, Fan Yang, Cheng Wang, Wenfeng Gong, Kurt Gray, Joseph D. Tucker

Summary: During the COVID-19 pandemic, pay-it-forward programs have become more widespread, offering healthcare providers an opportunity to reduce costs, increase uptake of interventions like testing and vaccines, and promote sustainability through gift-giving.

NATURE MEDICINE (2021)

添加到收藏夹

Article Business

Service transformation: How can it be achieved

Jay Kandampully, Anil Bilgihan, Milos Bujisic, Andreas Kaplan, Cheryl Burke Jarvis, Yupal Shukla

Summary: Service transformation requires a revolutionary strategic mindset within service firms, often involving technology and digitalization for long-term success. The process can range from minor linear reformation to cyclical and ongoing creative destruction and reincarnation.

JOURNAL OF BUSINESS RESEARCH (2021)

添加到收藏夹

Article History & Philosophy Of Science

How can belief be akratic?

Eugene Chislenko

Summary: This paper explores the possibility of akratic belief and defends it through intuitive examples and attribution arguments, ultimately concluding that akratic belief is possible.

SYNTHESE (2021)

添加到收藏夹

Article Pediatrics

Case Report: Multifocal EBV-Associated Diffuse Large B-Cell Lymphoma in a Patient With 6-MP Associated Lymphopenia With TPMT Deficiency

Lara Mueller-Scholden, Frank Deinlein, Matthias Eyrich, Paul Gerhardt Schlegel, Verena Wiegering, Matthias Woelfl

Summary: This case report highlights the development of a life-threatening EBV associated B-cell lymphoma in an adolescent patient with lymphoblastic T-cell lymphoma undergoing therapy with 6-MP. The patient had a TPMT deficiency, resulting in insufficient degradation of 6-MP and subsequent lymphopenia contributing to the development of EBV LPD. Discontinuation of 6-MP and initiation of rituximab monotherapy led to successful treatment.

FRONTIERS IN PEDIATRICS (2022)

添加到收藏夹

Article Immunology

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis

Masato Ogishi, Rui Yang, Remy Rodriguez, Dominic P. Golec, Emmanuel Martin, Quentin Philippot, Jonathan Bohlen, Simon J. Pelham, Andres Augusto Arias, Taushif Khan, Manar Ata, Fatima Al Ali, Flore Rozenberg, Xiao-Fei Kong, Maya Chrabieh, Candice Laine, Wei-Te Lei, Ji Eun Han, Yoann Seeleuthner, Zenia Kaul, Emmanuelle Jouanguy, Vivien Beziat, Leila Youssefian, Hassan Vahidnezhad, V. Koneti Rao, Benedicte Neven, Claire Fieschi, Davood Mansouri, Mohammad Shahrooei, Sevgi Pekcan, Gulsum Alkan, Melike Emiroglu, Hueseyin Tokgoez, Jouni Uitto, Fabian Hauck, Jacinta Bustamante, Laurent Abel, Sevgi Keles, Nima Parvaneh, Nico Marr, Pamela L. Schwartzberg, Sylvain Latour, Jean-Laurent Casanova, Stephanie Boisson-Dupuis

Summary: This study reports three patients from two families with severe tuberculosis (TB) and inherited complete ITK deficiency. ITK deficiency undermines the development and function of various IFN-γ-producing T cell subsets, thereby playing a role in the development of TB.

JOURNAL OF EXPERIMENTAL MEDICINE (2022)

添加到收藏夹

Article Chemistry, Multidisciplinary

How Can Surface-Crystallized Glass-Ceramics Be Piezoelectric?

Christian Russel, Wolfgang Wisniewski

Summary: The surface crystallization of non-ferroelectric, polar crystals from a glass often leads to piezoelectric surface layers. The orientation preference and polarity during crystal growth cannot be explained by common theories, but rather by the structure of the unit cells. The growth direction of the crystals is determined by the corners of coordination polyhedra, according to the coordination polyhedra rule, with planes parallel to the face of the coordination polyhedron undergoing the slowest growth.

CRYSTAL GROWTH & DESIGN (2021)

添加到收藏夹

Article Astronomy & Astrophysics

How short can stationary charged scalar hair be?

Shahar Hod

Summary: This study proves that charged rotating Kerr-Newman black holes can support bound-state charged-matter configurations made of minimally coupled massive-scalar fields, and these configurations have a compact lower bound.

PHYSICAL REVIEW D (2022)

添加到收藏夹

Editorial Material Multidisciplinary Sciences

Chronic pain can be treated - so why are millions still suffering?

Lucy Odling-Smee

Summary: Science is discovering the various mechanisms behind chronic pain, but finding effective treatments for individuals is still a challenge.

NATURE (2023)

添加到收藏夹

Article Medicine, Research & Experimental

Altered plasma metabolite levels can be detected years before a glioma diagnosis

Sebastian Loding, Ulrika Andersson, Rudolf Kaaks, Matthias B. Schulze, Valeria Pala, Ilona Urbarova, Pilar Amiano, Sandra M. Colorado-Yohar, Marcela Guevara, Alicia K. Heath, Anastasia Chrysovalantou Chatziioannou, Mattias Johansson, Lars Nyberg, Henrik Antti, Benny Bjoerkblom, Beatrice Melin

Summary: This study identified genetic and metabolic changes that occur several years before glioma diagnosis and proposed a blood metabolite panel that can play a significant role in the early detection of glioma.

JCI INSIGHT (2023)

添加到收藏夹

Article Chemistry, Multidisciplinary

How stable can the pentanitrogen cation be in kinetics?

Xiao Tian, Xiao-xu Bo, Yi-hong Ding

Summary: The study surprisingly found that the previously reported transition states do not correspond to N-2-extrusion for the 22 year-old pentanitrogen cation N-5(+) (01). By locating the real N-2-extrusion TS, the researchers were able to reconcile the inconsistency between the gas-phase and salt-like forms of 01 in both structure and energetics.

CHEMICAL COMMUNICATIONS (2021)

添加到收藏夹

Article Thermodynamics

How can industrial heat decarbonisation be accelerated through energy efficiency?

Abdullah M. Maghrabi, Jian Song, Christos N. Markides

Summary: The industrial sector needs to implement energy efficiency measures to improve its operations and performance. However, selecting the optimal energy efficiency measures for specific industries, plants, and processes remains a challenge. Therefore, developing systematic approaches to identify the best energy efficiency measures is crucial.

APPLIED THERMAL ENGINEERING (2023)

添加到收藏夹

Review Psychology, Multidisciplinary

How can implementation intentions be used to modify gambling behavior?

Tom St Quinton

Summary: This mini review illustrates how implementation intentions can be used to facilitate change in gambling behavior and help reduce the number of people with gambling problems.

FRONTIERS IN PSYCHOLOGY (2022)

添加到收藏夹

Article Plant Sciences

Magnesium deficiency stress in rice can be alleviated by partial nitrate nutrition supply

Na Deng, Hongyan Zhu, Jiangbo Xiong, Shidao Gong, Kailiu Xie, Qingyin Shang, Xiuxia Yang

Summary: Excess nitrogen and deficiency of magnesium in farmland is increasingly common and severe in southern China. This study investigated the physiological responses of rice crops to magnesium deficiency and its interaction with nitrogen forms. It was found that magnesium deficiency resulted in yellow leaves, dwarf plants, reduced tillers, and adverse effects on root morphology, photosynthesis, and nutrient accumulation. However, partial nitrate supply alleviated these symptoms and promoted root growth and vitality under magnesium-deficiency stress. These findings suggest that partial nitrate supply can mitigate magnesium-deficiency stress in rice.

PLANT PHYSIOLOGY AND BIOCHEMISTRY (2023)

添加到收藏夹

Article Green & Sustainable Science & Technology

Be regulated before be innovative? How environmental regulation makes enterprises technological innovation do better for public health

Guichuan Zhou, Wendi Liu, Tingting Wang, Wenxue Luo, Liming Zhang

Summary: The study finds that strict environmental regulation is beneficial for public health but may constrain technological innovation; environmental regulation flexibility does not significantly affect the relationship between environmental regulation and technological innovation, but positively moderates the relationship between technological innovation and public health.

JOURNAL OF CLEANER PRODUCTION (2021)

添加到收藏夹

Article Mathematics, Interdisciplinary Applications

Biased-voter model: How persuasive a small group can be?

Agnieszka Czaplicka, Christos Charalambous, Raul Toral, Maxi San Miguel

Summary: This study explores the dynamics of the voter model in the presence of confidence and bias. Analytical and numerical methods are used to investigate the impact of biased voters and their connectivity on the time and probability of achieving consensus. The findings suggest that the time to consensus increases with the fraction of biased voters and the degree of bias. Furthermore, different strategies for generating random network topologies can significantly affect the efficiency of reaching consensus and the influence of biased groups.

CHAOS SOLITONS & FRACTALS (2022)

添加到收藏夹

Article Oncology

Visualizing Synaptic Transfer of Tumor Antigens among Dendritic Cells

Megan K. Ruhland, Edward W. Roberts, En Cai, Adriana M. Mujal, Kyle Marchuk, Casey Beppler, David Nam, Nina K. Serwas, Mikhail Binnewies, Matthew F. Krummel

CANCER CELL (2020)

添加到收藏夹

Article Hematology

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies

Hye Sun Kuehn, Julie E. Niemela, Jennifer Stoddard, Sara Ciullini Mannurita, Tala Shahin, Shubham Goel, Mary Hintermeyer, Raul Jimenez Heredia, Mary Garofalo, Laura Lucas, Smriti Singh, Annalisa Tondo, Zachary Jacobs, William A. Gahl, Sylvain Latour, James Verbsky, John Routes, Charlotte Cunningham-Rundles, Kaan Boztug, Eleonora Gambineri, Thomas A. Fleisher, Shanmuganathan Chandrakasan, Sergio D. Rosenzweig

Summary: IKAROS is a transcription factor involved in lymphocyte development and function. Mutations affecting its C-terminal dimerization domain have been linked to hematologic disorders, disrupting dimerization and altering key gene regulation mechanisms. These mutations contribute to a growing spectrum of IKAROS-associated diseases with a genotype-phenotype correlation.

BLOOD (2021)

添加到收藏夹

Article Immunology

Treatment and management of primary antibody deficiency: German interdisciplinary evidence-based consensus guideline

Leif Hanitsch, Ulrich Baumann, Kaan Boztug, Ulrike Burkhard-Meier, Maria Fasshauer, Pirmin Habermehl, Fabian Hauck, Gerd Klock, Johannes Liese, Oliver Meyer, Rainer Mueller, Jana Pachlopnik-Schmid, Dorothea Pfeiffer-Kascha, Klaus Warnatz, Claudia Wehr, Kirsten Wittke, Tim Niehues, Horst von Bernuth

EUROPEAN JOURNAL OF IMMUNOLOGY (2020)

添加到收藏夹

Article Immunology

Novel Frameshift Autosomal Recessive Loss-of-Function Mutation inSMARCD2Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis

Esra Yucel, Ibrahim Serhat Karakus, Ana Krolo, Ayca Kiykim, Raul Jimenez Heredia, Zeynep Tamay, Funda Erol Cipe, Elif Karakoc-Aydiner, Ahmet Ozen, Serap Karaman, Kaan Boztug, Safa Baris

Summary: A new form of congenital neutropenia caused by mutations in the SMARCD2 gene was described in a patient who had various infections since infancy. The patient, carrying a novel homozygous mutation in SMARCD2, underwent hematopoietic stem cell transplantation at 10 years of age and showed successful recovery. Compared to previously reported cases, this patient exhibited distinctive myeloid features and longer survival before transplantation without blastic transformation.

JOURNAL OF CLINICAL IMMUNOLOGY (2021)

添加到收藏夹

Article Allergy

Novel BTK mutation in X-linked agammaglobulinemia: Report of a 17-year-old male

Zoha Shaka, Helia Mojtabavi, Elham Rayzan, Samaneh Zoghi, Sepideh Shahkarami, Jimenez Heredia Raul, Iraj Sedighi, Kaan Boztug, Nima Rezaei

Summary: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by rare mutations in the BTK gene. Mutations in the BTK gene lead to a reduced number of B-cells, resulting in increased susceptibility to infections. A 17-year-old XLA patient was found to have a hemizygous missense mutation in the BTK gene through genetic analysis.

ALLERGOLOGIA ET IMMUNOPATHOLOGIA (2021)

添加到收藏夹

Article Hematology

RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis

Artem Kalinichenko, Giovanna Perinetti Casoni, Loic Dupre, Luca Trotta, Jakob Huemer, Donatella Galgano, Yolla German, Ben Haladik, Julia Pazmandi, Marini Thian, Ozlem Yuce Petronczki, Samuel C. Chiang, Mervi Taskinen, Anne Hekkala, Saila Kauppila, Outi Lindgren, Terhi Tapiainen, Michael J. Kraakman, Kim Vettenranta, Alexis J. Lomakin, Janna Saarela, Mikko R. J. Seppanen, Yenan T. Bryceson, Kaan Boztug

Summary: This study identifies RhoG as a novel essential regulator in aiding the retention of cytotoxic granules near the plasma membrane, facilitating their release for the elimination of infected and malignant cells. The interaction between RhoG and Munc13-4 is crucial for the docking of cytotoxic granules to the plasma membrane and subsequent membrane fusion, shedding light on the molecular pathomechanism behind genetically determined forms of hemophagocytic lymphohistiocytosis.

BLOOD (2021)

添加到收藏夹

Review Biochemistry & Molecular Biology

An expanded universe of cancer targets

William C. Hahn, Joel S. Bader, Theodore P. Braun, Andrea Califano, Paul A. Clemons, Brian J. Druker, Andrew J. Ewald, Haian Fu, Subhashini Jagu, Christopher J. Kemp, William Kim, Calvin J. Kuo, Michael McManus, Gordon B. Mills, Xiulei Mo, Nidhi Sahni, Stuart L. Schreiber, Jessica A. Talamas, Pablo Tamayo, Jeffrey W. Tyner, Bridget K. Wagner, William A. Weiss, Daniela S. Gerhard

Summary: Characterization of cancer genomes has provided insight into somatically altered genes across tumors, but the function of most cancer alleles remains mysterious and does not impact therapy for most patients. Approaches to understand the function and circuitry of cancer genes provide complementary approaches to elucidate both oncogene and non-oncogene dependencies. Emerging work indicates that therapeutic targets engendered by non-oncogene dependencies are more diverse than recurrently mutated genes, providing new opportunities for clinical translation.

CELL (2021)

添加到收藏夹

Article Genetics & Heredity

Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

Lin Wang, Dominik Aschenbrenner, Zhiyang Zeng, Xiya Cao, Daniel Mayr, Meera Mehta, Melania Capitani, Neil Warner, Jie Pan, Liren Wang, Qi Li, Tao Zuo, Sarit Cohen-Kedar, Jiawei Lu, Rico Chandra Ardy, Daniel J. Mulder, Dilan Dissanayake, Kaiyue Peng, Zhiheng Huang, Xiaoqin Li, Yuesheng Wang, Xiaobing Wang, Shuchao Li, Samuel Bullers, Anis N. Gammage, Klaus Warnatz, Ana-Iris Schiefer, Gergely Krivan, Vera Goda, Walter H. A. Kahr, Mathieu Lemaire, Chien-Yi Lu, Iram Siddiqui, Michael G. Surette, Daniel Kotlarz, Karin R. Engelhardt, Helen R. Griffin, Robert Rottapel, Helene Decaluwe, Ronald M. Laxer, Michele Proietti, Sophie Hambleton, Suzanne Elcombe, Cong-Hui Guo, Bodo Grimbacher, Iris Dotan, Siew C. Ng, Spencer A. Freeman, Scott B. Snapper, Christoph Klein, Kaan Boztug, Ying Huang, Dali Li, Holm H. Uhlig, Aleixo M. Muise

Summary: The study identified damaging SYK gain-of-function variants in patients with immune deficiency and inflammatory diseases, which could be treated with bone marrow transplantation or SYK inhibitors. Treatment strategies for patients with SYK mutations were highlighted through knock-in mouse models showing disease amelioration with these interventions.

NATURE GENETICS (2021)

添加到收藏夹

Article Multidisciplinary Sciences

Impact of protein identity on tumor- associated antigen uptake into infiltrating immune cells: A comparison of different fluorescent proteins as model antigens

Rulan Yi, Emily Chen, Edward W. Roberts, Matthew F. Krummel, Nina Kathrin Serwas

Summary: Effective immune responses rely on antigen uptake, transport, and presentation. This study compares six different fluorescent proteins and highlights the impact of their properties on antigen detection and distribution. The findings shed light on potential mechanisms involved in antigen transfer.

PLOS ONE (2022)

添加到收藏夹

Article Infectious Diseases

BCGitis as the primary manifestation of chronic granulomatous disease

Nastaran Khalili, Iraj Mohammadzadeh, Neda Khalili, Rail Jimenez Heredia, Samaneh Zoghi, Kaan Boztug, Nima Rezaei

Summary: Patients with primary immunodeficiency disease are susceptible to mycobacterial disease and adverse events after BCG vaccination. Chronic granulomatous disease increases susceptibility to recurrent bacterial and fungal infections.

IDCASES (2021)

添加到收藏夹

Article Gastroenterology & Hepatology

Occurrence of autoimmune pancreatitis after chronic immune thrombocytopenia in a Caucasian adolescent

Hubert Kogler, Wolfgang Novak, Andreas Vecsei, Christina Zachbauer, Wolf-Dietrich Huber, Karoly Lakatos, Katharina Woeran, Judith Stift, Kaan Boztug, Leo Kager

Summary: This report describes a rare case of autoimmune pancreatitis co-occurring with chronic immune thrombocytopenia in childhood, which both achieved complete remission with corticosteroid therapy. Clinicians should be aware of this rare association and the importance of early diagnosis and treatment to prevent severe complications in autoimmune pancreatitis.

CLINICAL JOURNAL OF GASTROENTEROLOGY (2021)

添加到收藏夹

Meeting Abstract Immunology

A New Primary Antibody Deficiency (PAD) Related Human Phenotype Ontology (HPO) Tree Facilitates the Formation of Homogeneous PAD-Patient Cohorts for Future Research

Esther de Vries, Klaus Warnatz, Siobhan O. Burns, Raul Jimenez Heredia, Kaan Boztug, Peter Robinson, Julia Pazmandi, Matthias Haimel, Marielle E. van Gijn

JOURNAL OF CLINICAL IMMUNOLOGY (2020)

添加到收藏夹

Meeting Abstract Immunology

IKAROS Dimerization Defects Associated With Hematologic Cytopenias and Malignancies

Hye Sun Kuehn, Sara Ciullini Mannurita, Tala Shahin, Julie Niemela, Jennifer Stoddard, Mary Hintermeyer, Raul Jimenez Heredia, Mary Garofalo, Laura Lucas, Annalisa Tondo, Sylvain Latour, James Verbsky, John Routes, Charlotte Cunningham-Rundles, Kaan Boztug, Eleonora Gambineri, Thomas Fleisher, Shanmuganathan Chandrakasan, Sergio Rosenzweig

JOURNAL OF CLINICAL IMMUNOLOGY (2020)

添加到收藏夹

Meeting Abstract Immunology

Paediatric lymphomas: a possible warning sign of Primary Immunodeficiency Disorders (PIDDs)?

Sara Ciullini Mannurita, Annachiara Azzali, Ebe Schiavo, Marialuisa Coniglio, Sergio Rosenzweig, Kaan Boztug, Annalisa Tondo, Claudio Favre, Eleonora Gambineri

JOURNAL OF CLINICAL IMMUNOLOGY (2020)

添加到收藏夹

Meeting Abstract Immunology

Characterization of the Clinical and Immunological Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 Mutations

Tiziana Lorenzini, Manfred Fliegauf, Nils Klammer, Natalie Frede, Michele Proietti, Alla Bulashevska, Nadezhda Camacho-Ordonez, Markku Varjosalo, Matias Kinnunen, Esther de Vries, Jos W. M. van der Meer, Rohan Ameratunga, Chaim M. Roifman, Yael D. Schejter, Robin Kobbe, Timo Hautala, Faranaz Atschekzei, Reinhold E. Schmidt, Claudia Schroeder, Polina Stepensky, Bella Shadur, Luis A. Pedroza, Michiel van der Flier, Monica Martinez-Gallo, Luis Ignacio Gonzalez-Granado, Luis M. Allende, Anna Shcherbina, Natalia Kuzmenko, Victoria Zakharova, Joao Farela Neves, Peter Svec, Ute Fischer, Winnie Ip, Oliver Bartsch, Safa Baris, Christoph Klein, Raif Geha, Janet Chou, Mohammed Alosaimi, Lauren Weintraub, Kaan Boztug, Tatjana Hirschmugl, Maria Marluce Dos Santos Vilela, Dirk Holzinger, Maximilian Seidl, Vassilios Lougaris, Alessandro Plebani, Laia Alsina, Monica Piquer-Gibert, Angela Deya-Martinez, Charlotte A. Slade, Asghar Aghamohammadi, Hassan Abolhassani, Lennart Hammarstrom, Outi Kuismin, Merja Helminen, Hana Lango Allen, James E. Thaventhiran, Alexandra F. Freeman, Matthew Cook, Shahrzad Bakhtiar, Mette Christiansen, Charlotte Cunningham-Rundles, Niraj C. Patel, William Rae, Tim Niehues, Nina Brauer, Jaana Syrjanen, Mikko R. J. Seppanen, Siobhan O. Burns, Paul Tuijnenburg, Taco W. Kuijpers, Klaus Warnatz, Bodo Grimbacher

JOURNAL OF CLINICAL IMMUNOLOGY (2020)

添加到收藏夹

暂无数据

© Peeref 2019-2024. All rights reserved.