keyword
https://read.qxmd.com/read/38254043/effects-of-ifn-%C3%AE-on-the-immunological-microenvironment-and-tam-polarity-in-stage-ia-non-small-cell-lung-cancer-and-its-mechanisms
#21
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
https://read.qxmd.com/read/38243972/uniparental-disomy-as-a-mechanism-for-combined-oxidative-phosphorylation-deficiency-associated-with-mrps34-gene
#22
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
https://read.qxmd.com/read/38231436/clinical-and-treatment-history-of-patients-with-partial-digeorge-syndrome-and-autoimmune-cytopenia-at-multiple-centers
#23
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
https://read.qxmd.com/read/38228406/primary-and-secondary-defects-of-the-thymus
#24
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
https://read.qxmd.com/read/38226371/creatine-activity-as-a-neuromodulator-in-the-central-nervous-system
#25
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
https://read.qxmd.com/read/38205076/deficient-mismatch-repair-microsatellite-unstable-colorectal-cancer-therapeutic-advances-and-questions
#26
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
https://read.qxmd.com/read/38194689/clinical-and-functional-spectrum-of-rac2-related-immunodeficiency
#27
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
https://read.qxmd.com/read/38193476/an-overview-of-up-and-coming-immune-checkpoint-inhibitors-for-pancreatic-cancer
#28
REVIEW
Himil Mahadevia, Pedro Luiz Serrano Uson Junior, Jing Wang, Mitesh Borad, Hani Babiker
INTRODUCTION: Immune checkpoint inhibitors (ICIs) targeting programmed cell death protein-1 (PD-1/PD-L1) pathway as well as cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) have demonstrated substantial potential in several malignancies. Pancreatic adenocarcinoma (PC) still carries a high mortality despite tremendous advances in the anti-cancer arsenal. AREAS COVERED: In this review, we discuss completed and ongoing studies on various ICIs in PC. ICIs have not yielded significant benefits as monotherapy...
2024: Expert Opinion on Pharmacotherapy
https://read.qxmd.com/read/38184287/clinical-heterogeneity-in-families-with-multiple-cases-of-inborn-errors-of-immunity
#29
JOURNAL ARTICLE
Samaneh Delavari, Seyed Erfan Rasouli, Saba Fekrvand, Zahra Chavoshzade, Seyed Alireza Mahdaviani, Paniz Shirmast, Samin Sharafian, Roya Sherkat, Tooba Momen, Soheila Aleyasin, Hamid Ahanchian, Mahnaz Sadeghi-Shabestari, Hossein Esmaeilzadeh, Sahar Barzamini, Fateme Tarighatmonfared, Helia Salehi, Marzie Esmaeili, Zahra Marzani, Nazanin Fathi, Farhad Abolnezhadian, Mina Kianmanesh Rad, Ali Saeedi-Boroujeni, Afshin Shirkani, Zahra Bagheri, Fereshte Salami, Tannaz Moeini Shad, Mahsa Yousefpour Marzbali, Hanieh Mojtahedi, Azadehsadat Razavi, Naeimeh Tavakolinia, Taher Cheraghi, Marzieh Tavakol, Alireza Shafiei, Nasrin Behniafard, Sare Sadat Ebrahimi, Najmeh Sepahi, Amirhossein Ghaneimoghadam, Arezou Rezaei, Arash Kalantari, Hassan Abolhassani, Nima Rezaei
BACKGROUND: Inborn errors of immunity (IEI) are a diverse range of genetic immune system illnesses affecting the innate and/or adaptive immune systems. Variable expressivity and incomplete penetrance have been reported in IEI patients with similar clinical diagnoses or even the same genetic mutation. METHODS: Among all recorded patients in the national IEI registry, 193 families with multiple cases have been recognized. Clinical, laboratory and genetic variability were compared between 451 patients with different IEI entities...
January 4, 2024: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://read.qxmd.com/read/38150441/essential-role-for-batf3-dependent-dendritic-cells-in-regulating-cd8-t-cell-response-during-sars-cov-2-infection
#30
JOURNAL ARTICLE
Liat Bar-On, Hani Dekel, Moshe Aftalion, Theodor Chitlaru, Noam Erez
SARS-CoV-2 infection elicits robust CD8 T-cell responses, yet the identity of the mechanisms playing dominant roles in initiating the virus-specific CD8 T-cell responses are largely unknown. In the present study, we interrogate the contribution of the cDC1 subset to SARS-CoV-2-specific CD8 T-cell immunity. For this purpose, we used a novel murine line which combines the SARS-CoV-2 susceptible K18-hACE2 transgenic and the Batf3 deficient mice which lack the cDC1 subset. We demonstrate that in the absence of cDC1, viral-specific CD8 T-cell responses were severely impaired both in the draining lymph node as well as in the lungs, during the effector phase of SARS-CoV-2 infection...
2023: PloS One
https://read.qxmd.com/read/38146112/whole-exome-sequencing-to-identify-undiagnosed-primary-immunodeficiency-disorders-in-children-with-community-acquired-sepsis-admitted-in-the-pediatric-intensive-care-unit
#31
JOURNAL ARTICLE
Elham Rayzan, Mona Mirbeyk, Parmida Sadat Pezeshki, Masoud Mohammadpour, Bahareh Yaghmaie, Seyed Abbas Hassani, Meisam Sharifzadeh, Leila Tahernia, Nima Rezaei
BACKGROUND: Whole-exome sequencing (WES) provides a powerful diagnostic tool for identifying primary immunodeficiency diseases (PIDs). This study explores the utility of this approach in uncovering previously undiagnosed PIDs in children with community-acquired sepsis (CAS), with a medical history of recurrent infections or a family history of PIDs. METHODS: We performed WES on DNA samples extracted from the blood of the 34 enrolled patients, followed by bioinformatic analysis for variant calling, annotation, and prioritization...
December 2023: Pediatric Allergy and Immunology
https://read.qxmd.com/read/38134115/fulminant-acth-decrease-following-diabetic-ketoacidosis-induced-by-immune-checkpoint-inhibitor-combination-therapy-with-nivolumab-and-ipilimumab-a-case-report
#32
JOURNAL ARTICLE
Hiroshi Iesaka, Hiraku Kameda, Aika Miya, Hiroshi Nomoto, Kyu Yong Cho, Akinobu Nakamura, Takashige Abe, Nobuo Shinohara, Tatsuya Atsumi
RATIONALE: The increasing use of immune checkpoint inhibitors (ICIs) for treating malignant tumors result in the concomitant rise of immune-related adverse events (irAEs). This case report may provide useful insight to understanding the etiology of ICI-induced hypophysitis, a severe irAE leading to potentially fatal secondary adrenal insufficiency. PATIENT CONCERNS: An 81-year-old Japanese man was hospitalized for diabetic ketoacidosis following 4 courses of ICI combination therapy with nivolumab and ipilimumab for metastatic renal cell carcinoma...
December 22, 2023: Medicine (Baltimore)
https://read.qxmd.com/read/38129623/inherited-human-bcl10-deficiencies
#33
REVIEW
Ashwag A Alsaidalani, Blanca García-Solís, Esraa Bukhari, Ana Van Den Rym, Eduardo López-Collazo, Silvia Sánchez-Ramón, Fernando Corvillo, Alberto López-Lera, Ana de Andrés, Rubén Martínez-Barricarte, Rebeca Perez de Diego
Human BCL10 deficiency causes combined immunodeficiency with bone marrow transplantation as its only curative option. To date, there are four homozygous mutations described in the literature that were identified in four unrelated patients. Here, we describe a fifth patient with a novel mutation and summarize what we have learned about BCL10 deficiency. Due to the severity of the disease, accurate knowledge of its clinical and immunological characteristics is instrumental for early diagnosis and adequate clinical management of the patients...
December 22, 2023: Journal of Clinical Immunology
https://read.qxmd.com/read/38129328/novel-compound-heterozygous-zap70-r37g-a507t-mutations-in-infant-with-severe-immunodeficiency
#34
JOURNAL ARTICLE
Nathalia Benavides, Jason C White, Maria L Sanmillan, Morgan Thomas, Trong Le, Emi Caywood, Claudio G Giraudo
Zeta-chain associated protein kinase 70 kDa (ZAP70) combined immunodeficiency (CID) is an autosomal recessive severe immunodeficiency that is characterized by abnormal T-cell receptor signaling. Children with the disorder typically present during the first year of life with diarrhea, failure to thrive, and recurrent bacterial, viral, or opportunistic infections. To date, the only potential cure is hematopoietic stem cell transplant (HSCT). The majority of described mutations causing disease occur in the homozygous state, though heterozygotes are reported without a clear understanding as to how the individual mutations interact to cause disease...
December 22, 2023: Journal of Clinical Immunology
https://read.qxmd.com/read/38127423/ctla-4-antibody-drug-conjugate-reveals-autologous-destruction-of-b-lymphocytes-associated-with-regulatory-t-cell-impairment
#35
JOURNAL ARTICLE
Musleh M Muthana, Xuexiang Du, Mingyue Liu, Xu Wang, Wei Wu, Chunxia Ai, Lishan Su, Pan Zheng, Yang Liu
Germline CTLA-4 deficiency causes severe autoimmune diseases characterized by dysregulation of Foxp3+ Tregs, hyper-activation of effector memory T cells, and variable forms autoimmune cytopenia including gradual loss of B cells. Cancer patients with severe immune-related adverse events (irAE) after receiving anti-CTLA-4/PD-1 combination immunotherapy also have markedly reduced peripheral B cells. The immunological basis for B cell loss remains unexplained. Here, we probe the decline of B cells in human CTLA-4 knock-in mice by using anti-human CTLA-4 antibody Ipilimumab conjugated to a drug payload emtansine (Anti-CTLA-4 ADC)...
December 21, 2023: ELife
https://read.qxmd.com/read/38122866/unraveling-the-natural-history-of-good-s-syndrome-a-progressive-combined-adult-immunodeficiency
#36
JOURNAL ARTICLE
Aunonna Kabir, Vanessa Polito, Christos M Tsoukas
BACKGROUND: Good's syndrome (GS) is a rare immune deficiency described almost six decades ago. Despite numerous published individual case reports and data collected in cross-sectional studies of small cohorts, the natural history and long-term outcomes of this disease remain unknown. OBJECTIVE: We aimed to determine the clinical and laboratory evolution of 8 adults diagnosed with GS and consecutively evaluated between 1983-2023. METHODS: In this prospective, longitudinal cohort study, newly diagnosed GS patients were followed through repeated measures of clinical, immune, and hematologic changes, as well as targeted genetic screening...
December 18, 2023: Journal of Allergy and Clinical Immunology in Practice
https://read.qxmd.com/read/38096800/genetically-corrected-rag2-scid-human-hematopoietic-stem-cells-restore-v-d-j-recombinase-and-rescue-lymphoid-deficiency
#37
JOURNAL ARTICLE
Mara Pavel-Dinu, Cameron L Gardner, Yusuke Nakauchi, Tomoki Kawai, Ottavia M Delmonte, Boaz Palterer, Marita Bosticardo, Francesca Pala, Sebastien Viel, Harry L Malech, Hana Y Ghanim, Nicole M Bode, Gavin L Kurgan, Angela M Detweiler, Christopher A Vakulskas, Norma F Neff, Adam Sheikali, Sherah T Menezes, Jade Chrobok, Elaine M Hernández González, Ravindra Majeti, Luigi D Notarangelo, Matthew H Porteus
Recombination-activating genes (RAG1 and RAG2) are critical in lymphoid cell development and function by initiating the V(D)J-recombination process to generate polyclonal lymphocytes with broad antigen-specificity. Clinical manifestations of defective RAG1/2 genes range from immune dysregulation to severe combined immunodeficiencies (SCID), causing life-threatening infections and death early in life without hematopoietic cell transplantation (HCT). Despite improvements, haploidentical HCT without myeloablative conditioning carries a high risk of graft failure and incomplete immune reconstitution...
December 14, 2023: Blood Advances
https://read.qxmd.com/read/38065233/mysm1-attenuates-dna-damage-signals-triggered-by-physiologic-and-genotoxic-dna-breaks
#38
JOURNAL ARTICLE
Brendan Mathias, David O'Leary, Nermina Saucier, Faiz Ahmad, Lynn S White, Le'Mark Russell, Marwan Shinawi, Matthew J Smith, Roshini S Abraham, Megan A Cooper, Maleewan Kitcharoensakkul, Abby M Green, Jeffrey J Bednarski
BACKGROUND: Patients with deleterious variants in MYSM1 have an immune deficiency characterized by B cell lymphopenia, hypogammaglobulinemia, and increased radiosensitivity. MYSM1 is a histone deubiquitinase with established activity in regulating gene expression. MYSM1 also localizes to sites of DNA injury but its function in cellular responses to DNA breaks has not been elucidated. OBJECTIVE: We sought to determine the activity of MYSM1 in regulating DNA damage responses (DDR) to DNA double-stranded breaks (DSBs) generated during immunoglobulin receptor gene (Ig) recombination and by ionizing radiation...
December 6, 2023: Journal of Allergy and Clinical Immunology
https://read.qxmd.com/read/38055775/garp-and-earp-are-required-for-efficient-bohv-1-replication-as-identified-by-a-genome-wide-crispr-knockout-screen
#39
JOURNAL ARTICLE
Wenfang S Tan, Enguang Rong, Inga Dry, Simon G Lillico, Andy Law, Paul Digard, Bruce Whitelaw, Robert G Dalziel
The advances in gene editing bring unprecedented opportunities in high throughput functional genomics to animal research. Here we describe a genome wide CRISPR knockout library, btCRISPRko.v1, targeting all protein coding genes in the cattle genome. Using it, we conducted genome wide screens during Bovine Herpes Virus type 1 (BoHV-1) replication and compiled a list of pro-viral and anti-viral candidates. These candidates might influence multiple aspects of BoHV-1 biology such as viral entry, genome replication and transcription, viral protein trafficking and virion maturation in the cytoplasm...
December 2023: PLoS Pathogens
https://read.qxmd.com/read/38053993/cc16-drives-vla-2-dependent-splunc1-expression
#40
JOURNAL ARTICLE
Natalie Iannuzo, Holly Welfley, Nicholas C Li, Michael D L Johnson, Joselyn Rojas-Quintero, Francesca Polverino, Stefano Guerra, Xingnan Li, Darren A Cusanovich, Paul R Langlais, Julie G Ledford
RATIONALE: CC16 (Club Cell Secretory Protein) is a protein produced by club cells and other non-ciliated epithelial cells within the lungs. CC16 has been shown to protect against the development of obstructive lung diseases and attenuate pulmonary pathogen burden. Despite recent advances in understanding CC16 effects in circulation, the biological mechanisms of CC16 in pulmonary epithelial responses have not been elucidated. OBJECTIVES: We sought to determine if CC16 deficiency impairs epithelial-driven host responses and identify novel receptors expressed within the pulmonary epithelium through which CC16 imparts activity...
2023: Frontiers in Immunology
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