Advances in CRISPR/Cas gene therapy for inborn errors of immunity
Frontiers in Immunology, 2023 Inborn errors of immunity (IEIs) are a group of inherited disorders caused by mutations in the protein-coding genes involved in innate and/or adaptive immunity.
Xinyi Liu +5 more
semanticscholar +1 more source
Coincident onset of multiple sclerosis and herpes simplex virus 1 encephalitis. a case report [PDF]
, 2017 Background: Along with vitamin D, smoking, body mass index and others, Epstein Barr virus, other herpesviruses and human endogenous retroviruses represent plausible environmental risk factors for multiple sclerosis.
Buscarinu, M. C. +7 more
core +2 more sources
Personalized hematopoietic stem cell transplantation for inborn errors of immunity
Frontiers in Immunology, 2023 Patients with inborn errors of immunity (IEI) have been transplanted for more than 50 years. Many long-term survivors have ongoing medical issues showing the need for further improvements in how hematopoietic stem cell transplantation (HSCT) is performed
M. Slatter, S. Lum
semanticscholar +1 more source
Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects
Diagnostics, 2020 Inherited retinal diseases (IRDs), which are among the most common genetic diseases in humans, define a clinically and genetically heterogeneous group of disorders. Over 80 forms of syndromic IRDs have been described.
Yasmin Tatour, T. Ben-Yosef
semanticscholar +1 more source
Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations
International Journal of Neonatal Screening, 2023 Inborn errors of immunity (IEI) are a group of over 450 genetically distinct conditions associated with significant morbidity and mortality, for which early diagnosis and treatment improve outcomes. Newborn screening for severe combined immunodeficiency (
Jovanka R. King +2 more
semanticscholar +1 more source
Economics of tandem mass spectrometry screening of neonatal inherited disorders [PDF]
, 2006 Objectives: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Methods: A systematic review
Beverley, C. +4 more
core +1 more source
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center [PDF]
, 2021 Next-generation sequencing (NGS) technologies have been proposed as a first-line test for the diagnosis of inborn errors of metabolism (IEM), a group of genetically heterogeneous disorders with overlapping or nonspecific phenotypes. Over a 3-year period,
Avila-Alvarez, A +9 more
core +2 more sources
Human Genetics, 2020 Multicellular eukaryotes emerged late in evolution from an ocean of viruses, bacteria, archaea, and unicellular eukaryotes. These macroorganisms are exposed to and infected by a tremendous diversity of microorganisms. Those that are large enough can even
J. Casanova, L. Abel
semanticscholar +1 more source
Nutrition process improvements for adult inpatients with inborn errors of metabolism using the i-PARIHS framework [PDF]
, 2019 This project aimed to implement consensus recommendations and innovations that improve dietetic services to promote timely referral to optimise nutritional management for adult inpatients with inborn errors of metabolism (IEM).The i-PARIHS framework was ...
Mcgill, Jim +4 more
core +1 more source
Inborn errors of amino acid metabolism – from underlying pathophysiology to therapeutic advances
Disease Models & Mechanisms, 2023 Amino acids are organic molecules that serve as basic substrates for protein synthesis and have additional key roles in a diverse array of cellular functions, including cell signaling, gene expression, energy production and molecular biosynthesis ...
S. G. Ziegler +3 more
semanticscholar +1 more source