Articles tagged with Immunodeficiency
Comprehensive exploration of living organisms, biological systems, and life processes across all scales from molecules to ecosystems. Encompasses cutting-edge research in biology, genetics, molecular biology, ecology, biochemistry, microbiology, botany, zoology, evolutionary biology, genomics, and biotechnology. Investigates cellular mechanisms, organism development, genetic inheritance, biodiversity conservation, metabolic processes, protein synthesis, DNA sequencing, CRISPR gene editing, stem cell research, and the fundamental principles governing all forms of life on Earth.
Comprehensive medical research, clinical studies, and healthcare sciences focused on disease prevention, diagnosis, and treatment. Encompasses clinical medicine, public health, pharmacology, epidemiology, medical specialties, disease mechanisms, therapeutic interventions, healthcare innovation, precision medicine, telemedicine, medical devices, drug development, clinical trials, patient care, mental health, nutrition science, health policy, and the application of medical science to improve human health, wellbeing, and quality of life across diverse populations.
Comprehensive investigation of human society, behavior, relationships, and social structures through systematic research and analysis. Encompasses psychology, sociology, anthropology, economics, political science, linguistics, education, demography, communications, and social research methodologies. Examines human cognition, social interactions, cultural phenomena, economic systems, political institutions, language and communication, educational processes, population dynamics, and the complex social, cultural, economic, and political forces shaping human societies, communities, and civilizations throughout history and across the contemporary world.
Fundamental study of the non-living natural world, matter, energy, and physical phenomena governing the universe. Encompasses physics, chemistry, earth sciences, atmospheric sciences, oceanography, materials science, and the investigation of physical laws, chemical reactions, geological processes, climate systems, and planetary dynamics. Explores everything from subatomic particles and quantum mechanics to planetary systems and cosmic phenomena, including energy transformations, molecular interactions, elemental properties, weather patterns, tectonic activity, and the fundamental forces and principles underlying the physical nature of reality.
Practical application of scientific knowledge and engineering principles to solve real-world problems and develop innovative technologies. Encompasses all engineering disciplines, technology development, computer science, artificial intelligence, environmental sciences, agriculture, materials applications, energy systems, and industrial innovation. Bridges theoretical research with tangible solutions for infrastructure, manufacturing, computing, communications, transportation, construction, sustainable development, and emerging technologies that advance human capabilities, improve quality of life, and address societal challenges through scientific innovation and technological progress.
Study of the practice, culture, infrastructure, and social dimensions of science itself. Addresses how science is conducted, organized, communicated, and integrated into society. Encompasses research funding mechanisms, scientific publishing systems, peer review processes, academic ethics, science policy, research institutions, scientific collaboration networks, science education, career development, research programs, scientific methods, science communication, and the sociology of scientific discovery. Examines the human, institutional, and cultural aspects of scientific enterprise, knowledge production, and the translation of research into societal benefit.
Comprehensive study of the universe beyond Earth, encompassing celestial objects, cosmic phenomena, and space exploration. Includes astronomy, astrophysics, planetary science, cosmology, space physics, astrobiology, and space technology. Investigates stars, galaxies, planets, moons, asteroids, comets, black holes, nebulae, exoplanets, dark matter, dark energy, cosmic microwave background, stellar evolution, planetary formation, space weather, solar system dynamics, the search for extraterrestrial life, and humanity's efforts to explore, understand, and unlock the mysteries of the cosmos through observation, theory, and space missions.
Comprehensive examination of tools, techniques, methodologies, and approaches used across scientific disciplines to conduct research, collect data, and analyze results. Encompasses experimental procedures, analytical methods, measurement techniques, instrumentation, imaging technologies, spectroscopic methods, laboratory protocols, observational studies, statistical analysis, computational methods, data visualization, quality control, and methodological innovations. Addresses the practical techniques and theoretical frameworks enabling scientists to investigate phenomena, test hypotheses, gather evidence, ensure reproducibility, and generate reliable knowledge through systematic, rigorous investigation across all areas of scientific inquiry.
Study of abstract structures, patterns, quantities, relationships, and logical reasoning through pure and applied mathematical disciplines. Encompasses algebra, calculus, geometry, topology, number theory, analysis, discrete mathematics, mathematical logic, set theory, probability, statistics, and computational mathematics. Investigates mathematical structures, theorems, proofs, algorithms, functions, equations, and the rigorous logical frameworks underlying quantitative reasoning. Provides the foundational language and tools for all scientific fields, enabling precise description of natural phenomena, modeling of complex systems, and the development of technologies across physics, engineering, computer science, economics, and all quantitative sciences.
Waskyra, an ex vivo gene therapy, offers new hope for patients with Wiskott-Aldrich syndrome by reducing severe bleeding events and serious infections. The FDA approval confirms Fondazione Telethon's excellence in rare genetic disease research.
A landmark study published in the New England Journal of Medicine reports the long-term safety and efficacy of gene therapy for children with ADA-SCID, a rare immune disorder. The treatment resulted in a 100% survival rate and over 95% cure rate, with patients able to respond to routine childhood vaccinations.
A new survey found that 72% of respondents agree that plasma-derived medicines can save lives, but most haven't donated. Plasma is essential in producing treatments for various serious health conditions.
A newly identified antibody, 04_A06, has been found to block 98.5% of over 300 different HIV strains in laboratory tests. In humanized mice models, the antibody reduced viral load to undetectable levels, offering a promising approach for HIV prevention and treatment.
A big data study using multi-omics data from over 1,300 people with HIV has identified key molecular players causing non-AIDS-related comorbidities. The research reveals a range of previously hidden molecular patterns and players associated with various comorbidities.
A new study shows that delivering a single injection of gene therapy at birth may offer years-long protection against HIV. The treatment uses an adeno-associated virus to deliver instructions to muscle cells, which produce broadly neutralizing antibodies capable of neutralizing multiple strains of HIV.
Researchers have developed a new gene therapy protocol using the SIN-EFS-IL2RG.co vector, which demonstrates safety and efficacy in preclinical studies. The treatment restores immune functions and lacks oncogenicity, paving the way for further clinical trials in X-SCID patients.
The International Alliance for Primary Immunodeficiency Societies has partnered with Rockefeller University Press to launch the Journal of Human Immunity, an open-access journal focused on human immunity and inborn errors of immunity. The journal aims to provide a platform for groundbreaking research and attract top-tier submissions.
Researchers found impaired PD-1 activity can significantly reduce antibody diversity and quality in memory B cells. This may explain the increased rates of infection reported in patients with cancer receiving checkpoint inhibitor therapy.
Researchers at Niigata University successfully generated rat offspring from ovarian oocytes transplanted into mice, overcame previous challenges in producing fertilized eggs and embryos.
A team of researchers has discovered the role a specific protein complex plays in certain forms of immune dysregulation. SHARPIN deficiency is linked to autoinflammation and immunodeficiency, but unexpectedly does not manifest dermatological issues. Treatment with anti-TNF therapies resolves symptoms.
The new guideline aims to improve diagnosis and treatment of cryptococcosis, a fatal fungal infection that affects mainly the lungs and brain. It provides practical guidance for medical staff to recognize and manage invasive fungal infections, with the goal of improving patient survival rates.
Researchers uncover a link between hyperactive Rac2 and human immune deficiency, shedding light on a mysterious condition. They also find promise in using cellular cannibalism to enhance cancer treatment.
A long-acting biologic with transmucosal transport properties has been developed to block cellular infection of all SARS-CoV-2 variants. The biologic utilizes a soluble recombinant human ACE2 protein fused to an engineered human albumin variant, offering improved pharmacokinetic properties and delivery across selective barriers.
A research team identified two different RAD50 variants in a patient with progressive bone marrow failure and immunodeficiency, leading to loss of function of the MRN complex. The findings suggest that RAD50 deficiency/Nijmegen breakage syndrome-like disorder is characterized by growth retardation and microcephaly.
The study found that Paxlovid treatment was associated with reduced risk of COVID-19 hospitalization or death in clinically extremely vulnerable individuals. Severely immunocompromised patients showed the greatest benefit from this treatment.
Researchers at Karolinska Institutet have found that weightlessness affects T cells in astronauts' immune systems, making them less effective at fighting infections. The study's results could lead to new treatments for reversing these changes.
A new study published in BMJ Oncology has found that relatively short-term use of immunosuppressant medications to control inflammatory diseases is not associated with an increased risk of developing cancer. The research included over 10,000 participants and tracked their cancer incidence for an average of 10 years.
A University of Ottawa-led research team has made significant progress in understanding XLP-2, a genetic disorder that affects the immune system. The study reveals two underlying mechanisms: poor expression of Interleukin-6 and compromised T cell survival, which lead to immunodeficiency in patients.
Hematopoietic stem cell culture technology improves genome editing in HSCs by increasing successful correction rates to 100%, eliminating genetic mutations, and enhancing cell transplantation outcomes. This breakthrough enhances the efficiency and safety of gene editing in treating genetic diseases.
Researchers have found that microglial cells in the brain can serve as a stable viral reservoir for latent HIV. This discovery provides new insights into how to target and eradicate the virus, particularly in the brain or peripheral blood.
A recent study published in the Journal of Clinical Immunology suggests that cutaquig infusions at higher infusion rates and volumes are well-tolerated and effective, with reduced infusion time, fewer injection sites, and improved compliance. The study results will be presented at the Clinical Immunology Society 2023 Annual Meeting.
A protein called PI3K plays a crucial role in immune cell function, and genetic variations disrupting its signalling have been identified as the root cause of two immunodeficiency disorders. The study reveals how minor disruptions in immune cell signalling can lead to immune deficiency or dysfunction.
Researchers at UCLA successfully used base editing to correct a mutation causing rare immune deficiency CD3 delta SCID. The treatment corrected an average of 71% of patient stem cells and allowed them to produce fully functional T cells, suggesting long-term persistence of corrected blood stem cells.
A new cutaquig study found that increasing infusion volume per site resulted in a reduction of injection sites, while increasing infusion rates decreased infusion duration. The research also showed that dosing every other week demonstrated equivalency to trough levels with weekly dosing.
A study of seven children with profound immunodeficiency reveals a T95R mutation in the IRF4 gene, leading to an inborn combined immunodeficiency. The researchers found that the mutation affects immune cell development and function, causing the children to produce fewer antibodies and have impaired T cells.
Researchers analyzed 408 patients receiving immune checkpoint inhibitor therapy and found no increased risk of side effects from receiving both immunotherapy and the vaccine. The study supports NCCN's recommendations for COVID-19 vaccination in people with cancer, citing strong protection against severe COVID-19 for all variants.
A study by Karolinska Institutet found that children with primary immunodeficiency diseases have a higher mortality rate due to COVID-19. Genetic analysis revealed mutations in genes important for immune defense, and some children lacked antibodies to the coronavirus.
Researchers developed a genetic test that diagnoses primary immunodeficiency disorders (PID), revealing inherited genetic defects in nearly half of patients. The test uses next-generation sequencing technology to identify specific gene variants associated with PID, enabling targeted treatment and earlier intervention for family members.
Researchers at UTMB confirmed the presence of neutralizing antibodies to SARS-CoV-2 in a commonly used immunoglobulin product, providing protective benefits to immunocompromised patients. The study's findings have value for future immunoglobulin-based modalities and reduce anxiety about infection or exposure to the virus.
CD22 paradoxically augments BCR signaling by upregulating BCR expression, restoring B cell function in immunodeficient cells. High levels of BCR are required for survival, and CD22 facilitates this process.
Researchers have successfully generated large numbers of virus-resistant immune cells from monkeys using CRISPR/Cas9 gene editing. This breakthrough could lead to the development of a new treatment for HIV/AIDS by providing an alternative to current therapies that require lifelong medication and can cause side effects.
The Sanford Children's Genomic Medicine Consortium has initiated a whole genome sequencing research project to investigate undiagnosed illnesses in children with suspected inborn errors of immunity. The study aims to sequence the genomes of up to 25 patient genomes and learn information that can benefit patients and others.
An international research team discovered a new rare disease caused by a disrupted Helios-dependent epigenetic regulation mechanism, leading to T and B cell defects. The study highlights the importance of Helios in immune homeostasis and suggests potential therapeutic targets for immunodeficiency and malignancy.
A study led by Children's Hospital of Philadelphia found that lifelong immunoglobulin replacement therapy reduces premature deaths by 37% but is not cost-effective due to high costs. Reducing IRT prices could make it a more affordable option.
Researchers found APRIL protein essential for plasmacyte development and immunoglobulin production in humans. A deficiency in APRIL leads to reduced plasmacyte numbers and increased susceptibility to infections.
Primate immunodeficiency viruses have evolved to neutralize the human defense system by inactivating BST-2. The researchers identified a specific amino acid sequence in Vpu protein that enables this adaptation, allowing the virus to survive in a hostile environment.
Researchers have identified a novel human immunodeficiency syndrome caused by a mutation in the IKBKB gene. The mutation disrupts the immune system, resulting in excessive inflammation and reduced numbers of antibody-producing B cells and effector T cells.
Researchers at the University of Basel developed a rapid test to diagnose Sp110 protein deficiency, a severe immune defect. The test uses flow cytometry to detect the presence of Sp110 protein in patient blood cells, enabling quick diagnosis in hours.
A new genetic immunodeficiency has been characterized, allowing for the identification of patients at risk of fatal illnesses. Researchers have developed a unique platform to detect subtle immune system defects, enabling clinicians to provide timely treatments and preventive measures.
A new human immunodeficiency has been discovered due to a faulty RASGRP1 gene, affecting T cells, B cells, and Natural Killer cells. The study identified a potential treatment using the drug lenalidomide, which reversed some effects of the mutation.
A study published in the Journal of Experimental Medicine has identified a genetic defect in the immune system that can lead to fatal brain inflammation in some people infected with the herpes virus. The discovery may also shed light on other types of viral infections, such as meningitis and influenza.
Researchers identified epigenetic alterations in CVID patients by comparing monozygotic twins. They found higher DNA methylation levels and impaired DNA demethylation in immunodeficient B cells, leading to reduced antibody production and altered cell maturation. These findings provide new insights into the diagnosis and treatment of CVID.
Researchers discovered links between a rare gene variant and common variable immunodeficiency (CVID), a serious childhood immune disorder. The finding may lead to highly targeted therapies for patients with the disease.
The Jeffrey Modell Foundation has awarded a research grant to a Belgian laboratory led by Adrian Liston to develop a gene therapy for children suffering from IPEX syndrome. The gene therapy aims to correct the mutation responsible for the disease, offering a potential cure for this rare and fatal autoimmune disorder.
A new genomics study has identified genetic patterns in children with CVID, a complex and unpredictable immune disorder. The researchers have developed a predictive algorithm that can distinguish CVID from healthy controls with 99% accuracy.
The Jeffrey Modell Endowed Chair in Pediatric Immunology Research will advance research into primary immunodeficiency diseases, enabling early diagnosis and treatment to prevent permanent damage. Dr. Orange is renowned for studying natural killer cells and innate immune system biology.
Researchers discovered a genetic mutation in the DOCK8 gene that accounts for combined immunodeficiency, a previously undefined primary immune deficiency disease. This discovery provides a more accurate diagnosis for individuals with this rare condition and sheds light on its causes.
Researchers found that a gene deficiency in CalDAG-GEFI may explain the loss of platelet function leading to recurrent bleeding in patients with leukocyte adhesion deficiency III. Additionally, IL-33 and ST2 signaling was identified as a critical mechanism for protecting the heart from stress, suggesting potential new therapeutic targets.
The VIRTUE Trial is a Phase IV clinical trial evaluating patient satisfaction and annual rate of serious bacterial infections using Vivaglobin subcutaneous administration for one year. Patients will self-administer the medication and assess overall health-related quality of life, comparing it to previous intravenous treatment experience.
The need for consensus on IVIG dosing and frequency arises as its use expands, with infusion nurses playing a crucial role in achieving best results from therapy. The article highlights the importance of developing guidelines that maximize patient benefit and minimize risk, given the unique response to different IVIG products.
Individuals with reduced functional Artemis protein are prone to mild immunodeficiency and increased risk of developing lymphomas. This finding suggests that mutations in Artemis or other DNA repair genes may be responsible for immune deficiency and/or lymphoma cases.
BLYS, a protein that stimulates antibody production, is being tested in patients with CVID. The trial aims to determine the efficacy of BLyS in producing antibodies and warding off infections.