Results 41 to 50 of about 618,834 (263)
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
The Challenge of Diagnosis and Indication for Treatment in Fabry Disease
Journal of Inborn Errors of Metabolism and Screening, 2017 Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic ...
Marco A. Curiati MD +7 more
doaj +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
Genetics and Molecular Biology, 2019 Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA).
T. Vieira +11 more
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
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
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
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
Immunological Reviews, 2023 Inflammatory bowel diseases (IBD) are multifactorial diseases which are caused by the combination of genetic predisposition, exposure factors (environmental and dietary), immune status, and dysbiosis.
Caroline H T Hall, E. D. de Zoeten
semanticscholar +1 more source
Transcription factor defects in inborn errors of immunity with atopy
Frontiers in Allergy, 2023 Transcription factors (TFs) are critical components involved in regulating immune system development, maintenance, and function. Monogenic defects in certain TFs can therefore give rise to inborn errors of immunity (IEIs) with profound clinical ...
M. Vaseghi-Shanjani +6 more
semanticscholar +1 more source