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JOURNAL ARTICLE
Fayhan J Alroqi, Musaab A Alhezam, Abdullah I Almojali, Tlili Barhoumi, Nouf Althubaiti, Yousef Alharbi, Mohammed A Al Balwi, Abdulrahman Alrasheed
PURPOSE: Major histocompatibility complex (MHC) class II deficiency is one of the combined immune deficiency disorders caused by defects in the MHC class II regulatory genes leading to abnormal T cells development and function. Therefore, patients mainly present with increased susceptibility to infections, diarrhea, and failure to thrive. In this report, we present one MHC class II deficient patient with a novel presentation with Hemophagocytic Lymphohistiocytosis (HLH). METHODS: Immunophenotyping of lymphocyte subpopulations and HLA-DR expression was assess by flow cytometry...
March 1, 2024: Journal of Clinical Immunology
#22
Silvia Ricci, Walter Maria Sarli, Lorenzo Lodi, Clementina Canessa, Francesca Lippi, Donata Dini, Marta Ferrari, Laura Pisano, Elena Sieni, Giuseppe Indolfi, Massimo Resti, Chiara Azzari
BACKGROUND: Hemophagocytic Lymphohistiocytosis (HLH) is a rare and life-threatening condition characterized by a severe impairment of the immune homeostasis. While Familial-HLH (FHL) is a known cause, the involvement of other Inborn Errors of Immunity (IEI) in pediatric-HLH remains understudied. OBJECTIVE: This systematic review aimed to assess the clinical features, triggers, laboratory data, treatment, and outcomes of pediatric HLH patients with IEI other than FHL (IEInotFHL), emphasizing the importance of accurate identification and management...
2024: Frontiers in Immunology
#23
JOURNAL ARTICLE
Yixiao Bin, Sanhua Wei, Ruo Chen, Haowei Zhang, Jing Ren, Peijuan Liu, Zhiqian Xin, Tianjiao Zhang, Haijiao Yang, Ke Wang, Zhuan Feng, Xiuxuan Sun, Zhinan Chen, Hai Zhang
Severe combined immunodeficient (SCID) mice serve as a critical model for human xenotransplantation studies, yet they often suffer from low engraftment rates and susceptibility to graft-versus-host disease (GVHD). Moreover, certain SCID strains demonstrate 'immune leakage', underscoring the need for novel model development. Here, we introduce an SCID mouse model with a targeted disruption of the dclre1c gene, encoding Artemis, which is essential for V(D)J recombination and DNA repair during T cell receptor (TCR) and B cell receptor (BCR) assembly...
February 2, 2024: Biomolecules
#24
JOURNAL ARTICLE
Meike Kespohl, Carl Christoph Goetzke, Nadine Althof, Clara Bredow, Nicolas Kelm, Sandra Pinkert, Thomas Bukur, Valesca Bukur, Kristin Grunz, Dilraj Kaur, Arnd Heuser, Michael Mülleder, Martina Sauter, Karin Klingel, Hartmut Weiler, Nikolaus Berndt, Matthias M Gaida, Wolfram Ruf, Antje Beling
BACKGROUND: Accumulating evidence implicates the activation of G-protein-coupled PARs (protease-activated receptors) by coagulation proteases in the regulation of innate immune responses. METHODS: Using mouse models with genetic alterations of the PAR2 signaling platform, we have explored contributions of PAR2 signaling to infection with coxsackievirus B3, a single-stranded RNA virus provoking multiorgan tissue damage, including the heart. RESULTS: We show that PAR2 activation sustains correlates of severe morbidity-hemodynamic compromise, aggravated hypothermia, and hypoglycemia-despite intact control of the virus...
February 22, 2024: Arteriosclerosis, Thrombosis, and Vascular Biology
#25
JOURNAL ARTICLE
Roshini S Abraham, Amrita Basu, Jennifer R Heimall, Elizabeth Dunn, Alison Yip, Malika Kapadia, Neena Kapoor, Lisa Forbes Satter, Rebecca Buckley, Richard O'Reilly, Geoffrey D E Cuvelier, Sharat Chandra, Jeffrey Bednarski, Sonali Chaudhury, Theodore B Moore, Hilary Haines, Blachy J Dávila Saldaña, Deepakbabu Chellapandian, Ahmad Rayes, Karin Chen, Emi Caywood, Shanmuganathan Chandrakasan, Mark Thomas Vander Lugt, Christen Ebens, Pierre Teira, Evan Shereck, Holly Miller, Victor Aquino, Hesham Eissa, Lolie C Yu, Alfred Gillio, Lisa Madden, Alan Knutsen, Ami J Shah, Kenneth DeSantes, Jessie Barnum, Larisa Broglie, Avni Y Joshi, Gary Kleiner, Jasmeen Dara, Susan Prockop, Caridad Martinez, Talal Mousallem, Joseph Oved, Lauri Burroughs, Rebecca Marsh, Troy R Torgerson, Jennifer W Leiding, Sung Yun Pai, Donald B Kohn, Michael A Pulsipher, Linda M Griffith, Luigi D Notarangelo, Morton J Cowan, Jennifer Puck, Christopher C Dvorak, Elie Haddad
Severe combined immunodeficiency (SCID) is characterized by a severe deficiency in T cell numbers. We analyzed data collected (n = 307) for PHA-based T cell proliferation from the PIDTC SCID protocol 6901, using either a radioactive or flow cytometry method. In comparing the two groups, a smaller number of the patients tested by flow cytometry had <10% of the lower limit of normal proliferation as compared to the radioactive method (p = 0.02). Further, in patients with CD3+ T cell counts between 51 and 300 cells/μL, there was a higher proliferative response with the PHA flow assay compared to the 3 H-T assay (p < 0...
February 15, 2024: Clinical Immunology: the Official Journal of the Clinical Immunology Society
#26
JOURNAL ARTICLE
Angisha Basnet, Kaitlyn M Landreth, Remi Nohoesu, Stell P Santiago, Werner J Geldenhuys, Brian A Boone, Tracy W Liu
Pancreatic ductal adenocarcinoma is a devastating disease characterized by an extreme resistance to current therapies, including immune checkpoint therapy. The limited success of immunotherapies can be attributed to a highly immunosuppressive pancreatic cancer microenvironment characterized by an extensive infiltration of immune suppressing myeloid cells. While there are several pathways through which myeloid cells contribute to immunosuppression, one important mechanism is the increased production of reactive oxygen species...
February 17, 2024: Cancer Immunology, Immunotherapy: CII
#27
JOURNAL ARTICLE
Maddalena Migliavacca, Federica Barzaghi, Claudia Fossati, Paola M V Rancoita, Michela Gabaldo, Francesca Dionisio, Stefania Giannelli, Federica Andrea Salerio, Francesca Ferrua, Francesca Tucci, Valeria Calbi, Vera Gallo, Salvatore Recupero, Giulia Consiglieri, Roberta Pajno, Maria Sambuco, Alessio Priolo, Chiara Ferri, Vittoria Garella, Ilaria Monti, Paolo Silvani, Silvia Darin, Miriam Casiraghi, Ambra Corti, Stefano Zancan, Margherita Levi, Daniela Cesana, Filippo Carlucci, Anna Pituch-Noworolska, Dalia AbdElaziz, Ulrich Baumann, Andrea Finocchi, Caterina Cancrini, Saverio Ladogana, Andrea Meinhardt, Isabelle Meyts, Davide Montin, Lucia Dora Notarangelo, Fulvio Porta, Marlène Pasquet, Carsten Speckmann, Polina Stepensky, Alberto Tommasini, Marco Rabusin, Zeynep Karakas, Miguel Galicchio, Lucia Leonardi, Marzia Duse, Sukru Nail Guner, Clelia Di Serio, Fabio Ciceri, Maria Ester Bernardo, Alessandro Aiuti, Maria Pia Cicalese
Adenosine deaminase (ADA) deficiency leads to severe combined immunodeficiency (SCID). Previous clinical trials showed that autologous CD34+ cell gene therapy (GT) following busulfan reduced-intensity conditioning is a promising therapeutic approach for ADA-SCID, but long-term data are warranted. Here we report an analysis on long-term safety and efficacy data of 43 patients with ADA-SCID who received retroviral ex vivo bone marrow-derived hematopoietic stem cell GT. Twenty-two individuals (median follow-up 15...
February 14, 2024: Nature Medicine
#28
JOURNAL ARTICLE
Nima Taghizadeh, Soha Mohammadi, Hassan Abolhassani, Sima Shokri, Mohammad Nabavi, Morteza Fallahpour, Mohammad Hassan Bemanian
BACKGROUND: Severe combined immunodeficiencies (SCIDs) are hereditary disorders characterized by impaired T and B cell function, resulting in significant immune system dysfunction. Recombination-activating gene (RAG) mutations account for a substantial proportion of SCID cases. Here, we present two sibling cases of SCID caused by a novel RAG2 gene mutation. CASE PRESENTATION: The index case was an 8-year-old boy who had a history of recurring infections. After a comprehensive immunological workup, the initial diagnosis of agammaglobulinemia was revised to combined immunodeficiency (CID)...
February 13, 2024: BMC Pediatrics
#29
JOURNAL ARTICLE
Gorantla V Raghuram, Kavita Pal, Gaurav Sriram, Afzal Khan, Ruchi Joshi, Vishalkumar Jadhav, Sushma Shinde, Alfina Shaikh, Bhagyeshri Rane, Harshada Kangne, Indraneel Mittra
Metastatic dissemination following successful treatment of the primary tumour remains a common cause of death. There is mounting evidence that therapeutic interventions themselves may promote development of metastatic disease. We earlier reported that cell-free chromatin particles (cfChPs) released from dying cancer cells are potentially oncogenic. Based on this observation we hypothesized that therapeutic interventions may lead to the release of cfChPs from therapy induced dying cancer cells which could be carried via the blood stream to distant organs to transform healthy cells into new cancers that would masquerade as metastasis...
2024: PloS One
#30
JOURNAL ARTICLE
Heena Ranchod, Wayne Howard, Adele Roux, Walda van Zyl, Pieter Ekermans, Sylvia van den Berg, Lerato Seakamela, Koketso Makua, Mukhlid Yousif, Rosinah Sibiya, Heleen Du Plessis, Emmanuel Phalane, Kerrigan McCarthy, Shelina Moonsamy, David Reynders, Jeffrey Hincks, Melinda S Suchard, Nicolette M du Plessis
Patients with severe primary immunodeficiency are at risk for complications from live-attenuated vaccines. Here, we report a case of a vaccine-associated paralytic polio and Bacille Calmette-Guérin disease in a 6-month-old girl with severe combined immunodeficiency resulting from homozygous recombinant activating gene 1 deficiency. The patient was successfully treated with intravenous immunoglobulins and oral pocapavir for poliovirus, and antimycobacterial therapy for regional Bacille Calmette-Guérin disease, allowing stem cell transplant...
February 2024: Open Forum Infectious Diseases
#31
Jiongfei Chen, Meiwen Chen, Ya Lin, Xiangjuan Li
Multiple intestinal atresia with combined immune deficiency is a severe autosomal recessive disorder caused by the tetratricopeptide repeat domain 7A ( TTC7A ) gene deficiency, which is characterized by extensive intestinal defects with immune deficiency. This report describes a fetus with TTC7A deficiency who developed meconium peritonitis in utero. Evidence suggests that patients with TTC7A deficiency present with intestinal defects as early as in utero. In this case, intestinal abnormalities were considered during the prenatal examination at week 28, and chromosome and genetic tests were performed...
2024: SAGE Open Medical Case Reports
#32
JOURNAL ARTICLE
Anne L Rosen, Michael A Lint, Dayne H Voelker, Nicole M Gilbert, Christopher P Tomera, Jesús Santiago-Borges, Meghan A Wallace, Thomas J Hannan, Carey-Ann D Burnham, Scott J Hultgren, Andrew L Kau
Millions suffer from urinary tract infections (UTIs) worldwide every year with women accounting for the majority of cases. Uropathogenic Escherichia coli (UPEC) causes most of these primary infections and leads to 25% becoming recurrent or chronic. To repel invading pathogens, the urinary tract mounts a vigorous innate immune response that includes the secretion of antimicrobial peptides (AMPs), rapid recruitment of phagocytes, and exfoliation of superficial umbrella cells. Here, we investigate secretory leukocyte protease inhibitor (SLPI), an AMP with antiprotease, antimicrobial, and immunomodulatory functions, known to play protective roles at other mucosal sites, but not well characterized in UTIs...
January 25, 2024: MBio
#33
REVIEW
Edoardo Crimini, Luca Boscolo Bielo, Pier Paolo Maria Berton Giachetti, Gloria Pellizzari, Gabriele Antonarelli, Beatrice Taurelli Salimbeni, Matteo Repetto, Carmen Belli, Giuseppe Curigliano
High microsatellite instability (MSI-H) derives from genomic hypermutability due to deficient mismatch repair function. Colorectal (CRC) and endometrial cancers (EC) are the tumor types that more often present MSI-H. Anti-PD(L)-1 antibodies have been demonstrated to be agnostically effective in patients with MSI-H cancer, but 50-60% of them do not respond to single-agent treatment, highlighting the necessity of expanding their treatment opportunities. Ipilimumab (anti-CTLA4) is the only immune checkpoint inhibitor (ICI) non-targeting PD(L)-1 that has been approved so far by the FDA for MSI-H cancer, namely, CRC in combination with nivolumab...
January 9, 2024: Cancers
#34
JOURNAL ARTICLE
Weijie Zhao, Huipeng Wang, Xiangwu Zhang, Li Zhang, Wei Pu, Yuhui Ma, Wanling Chen
OBJECTIVE: To investigate the effect of interferon-γ (IFN-γ) on the immune microenvironment and the polarity of tumor-associated macrophages (TAMs) in stage IA non-small cell lung cancer (NSCLC) and its mechanisms. METHODS: Human non-small cell lung cancer A549 cells were treated with a series of IFN-γ concentrations (0, 50, 100, 150, 200, 250, and 300 ng/mL). Tumor tissues from patients with stage IA NSCLC were cultured using the air-liquid interface culture technique to establish a tumor microenvironment (TME) organ model...
January 22, 2024: BMC Pulmonary Medicine
#35
JOURNAL ARTICLE
Marta P Soares, André M Travessa, Sónia Custódio, Carla Pereira, Patrícia Pinto, Ana Berta Sousa
INTRODUCTION: Mitochondrial oxidative phosphorylation (OXPHOS) is a cellular process that generates most of the cellular energy required by the body. Disorders affecting OXPHOS are multisystem diseases caused by pathogenic variants in more than 50 genes. In 2017, biallelic variants in the MRPS34 gene were shown to cause combined oxidative phosphorylation deficiency type 32 (COPD32) (OMIM#617664); however, only 7 patients have been reported in the literature up to this moment. COPD32 is characterized mainly by a severe Leigh-like syndrome...
January 12, 2024: Endocrine, Metabolic & Immune Disorders Drug Targets
#36
JOURNAL ARTICLE
Priya K Patel, Michell Lozano Chinga, Melis Yilmaz, Sonia Joychan, Boglarka Ujhazi, Maryssa Ellison, Sumai Gordon, Daime Nieves, Krisztian Csomos, Don Eslin, Zeinab A Afify, Jessica Meznarich, John Bohnsack, Kelly Walkovich, Markus G Seidel, Svetlana Sharapova, Oksana Boyarchyk, Elena Latysheva, Irina Tuzankina, Ahmad B Shaker, Irmel Ayala, Panida Sriaroon, Emma Westermann-Clark, Jolan E Walter
BACKGROUND: Patients with partial DiGeorge syndrome (pDGS) can present with immune dysregulation, the most common being autoimmune cytopenia (AIC). There is a lack of consensus on the approach to type, combination, and timing of therapies for AIC in pDGS. Recognition of immune dysregulation early in pDGS clinical course may help individualize treatment and prevent adverse outcomes from chronic immune dysregulation. OBJECTIVES: Objectives of this study were to characterize the natural history, immune phenotype, and biomarkers in pDGS with AIC...
January 17, 2024: Journal of Clinical Immunology
#37
REVIEW
Sarah S Dinges, Kayla Amini, Luigi D Notarangelo, Ottavia M Delmonte
The thymus is the primary site of T-cell development, enabling generation, and selection of a diverse repertoire of T cells that recognize non-self, whilst remaining tolerant to self- antigens. Severe congenital disorders of thymic development (athymia) can be fatal if left untreated due to infections, and thymic tissue implantation is the only cure. While newborn screening for severe combined immune deficiency has allowed improved detection at birth of congenital athymia, thymic disorders acquired later in life are still underrecognized and assessing the quality of thymic function in such conditions remains a challenge...
January 16, 2024: Immunological Reviews
#38
REVIEW
G H Meftahi, B Hatef, G Pirzad Jahromi
Creatine is a nutritional compound that potentially influences cognitive processing and neuroprotection. Recent evidence has demonstrated that similar to neurotransmitters, creatine is released in an excitotoxic and action potential-dependent manner and acts as a neuromodulator. Creatine deficiency syndromes are characterized by severe mental and developmental disorders. Studies have reported that brain creatine content could be enhanced with creatine supplementation. Nevertheless, there is still limited knowledge about the effects of creatine on the central nervous system...
August 2023: Archives of Razi Institute
#39
REVIEW
Baptiste Cervantes, Thierry André, Romain Cohen
The microsatellite instability (MSI) phenotype is related to a deficiency of the DNA mismatch repair (dMMR) system and is observed in 5% of metastatic colorectal cancers (mCRCs). MSI/dMMR phenotype testing should be routine for all CRCs regardless of stage. Two complementary techniques with a high concordance (90-97%) allow us to determine the MSI/dMMR status of a tumor: immunohistochemistry and polymerase chain reaction. Since 2020 and the results of the phase III KEYNOTE 177 trial, pembrolizumab [anti-programmed cell death protein 1 (PD1)] is the new standard of care in first-line MSI/dMMR mCRC...
2024: Therapeutic Advances in Medical Oncology
#40
JOURNAL ARTICLE
Agnes Donkó, Svetlana O Sharapova, Juraj Kabat, Sundar Ganesan, Fabian Hauck, Louis Marois, Jordan Abbott, Despina Moshous, Kelli W Williams, Nicholas Campbell, Paul L Martin, Chantal Lagresle-Peyrou, Timothy David Trojan, Natalia Kuzmenko, Ekaterina Deordieva, Elena Raykina, Michael S Abers, Hassan Abolhassani, Vincent Barlogis, Carlos Carlos Milla Milla, Geoffrey Hall, Talal Mousallem, Joseph A Church, Neena Kapoor, Guilhem Cros, Hugo Chapdelaine, Clara Franco-Jarava, Ingrid Lopez-Lerma, Maurizio Miano, Jennifer W Leiding, Christoph Klein, Marie José Stasia, Alain Fischer, Kuang-Chih Hsiao, Timi Martelius, Mikko R J Seppänen, Sara Barmettler, Jolan E Walter, Tania Nicole Masmas, Anna Mukhina, Emilia Liana Falcone, Sven Kracker, Anna Shcherbina, Steven M Holland, Thomas L Leto, Amy P Hsu
Mutations in the small Rho-family GTPase, RAC2, critical for actin cytoskeleton remodeling and intracellular signal transduction, are associated with neonatal severe combined immunodeficiency (SCID), infantile neutrophilic disorder resembling leukocyte adhesion deficiency (LAD), and later-onset combined immune deficiency (CID). We investigated 54 RAC2 patients (23 previously reported) from 37 families. Data were collected from referring physicians and literature reports with updated clinical information. Patients were grouped by presentation: neonatal SCID (n=5), infantile LAD-like disease (n=5), or CID (n=44)...
January 9, 2024: Blood
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