Results 41 to 50 of about 4,110,972 (276)
Journal of Medical Case Reports, 2009 Introduction About 20% of the cases of human severe combined immunodeficiency are the result of the child being homozygous for defective genes encoding the enzyme adenosine deaminase.
Hellani Ali +2 more
doaj +1 more source
A Novel Homozygous JAK3 Mutation Leading to T-B+NK– SCID in Two Brazilian Patients
Frontiers in Pediatrics, 2018 We report a novel homozygous JAK3 mutation in two female Brazilian SCID infants from two unrelated kindreds. Patient 1 was referred at 2 months of age due to a family history of immunodeficiency and the appearance of a facial rash.
Lucila A. Barreiros +6 more
doaj +1 more source
Adenosine deaminase deficiency and severe combined immunodeficiency disease [PDF]
, 1977 The nature of the association of adenosine deaminase deficiency and severe combined immunodeficiency disease is reviewed. The basis for the molecular heterogeneity exhibited by adenosine deaminase in human tissue and the mechanisms whereby a deficiency ...
Van der Weyden, Martin B. +1 more
core +1 more source
FOXN1 deficient nude severe combined immunodeficiency [PDF]
, 2017 Nude severe combined immunodeficiency is a rare inherited disease caused by autosomal recessive loss-of-function mutations in FOXN1 . This gene encodes a transcription factor essential for the development of the thymus, the primary lymphoid organ that ...
Dhalla, F +6 more
core +1 more source
, 2023 At the request of the National Screening Advisory Committee (NSAC), the Health Information and Quality Authority (HIQA) agreed to undertake a health technology assessment (HTA) of the addition of severe combined immunodeficiency (SCID) to the National ...
Health Information and Quality Authority (HIQA)
core
A high-quality severe combined immunodeficiency (SCID) rat bioresource.
PLoS ONE, 2022 Immunodeficient animals are valuable models for the engraftment of exogenous tissues; they are widely used in many fields, including the creation of humanized animal models, as well as regenerative medicine and oncology.
Yoshiki Miyasaka +7 more
doaj +1 more source
Prenatal exclusion of severe combined immunodeficiency [PDF]
Archives of Disease in Childhood, 1982 By analysing leucocyte subpopulations with monoclonal antisera, we have shown that the diagnosis of severe combined immunodeficiency can be made soon after birth. The technique of staining has been adapted for small blood samples, and normal ranges of leucocyte subpopulations have been established for fetal blood taken from mid-trimester pregnancies ...
R J, Levinsky +3 more
openaire +2 more sources
Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID) [PDF]
, 2009 Adenosine deaminase deficiency (ADA) is a rare, inherited disorder of purine metabolism characterized by immunodeficiency, failure to thrive and metabolic abnormalities. A lack of the enzyme ADA allows accumulation of toxic metabolites causing defects of
Claire Booth +3 more
core
Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system
FEBS Letters, EarlyView.Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley +1 more source
From mice to humans—divergent strategies for intestinal homeostasis and regeneration
FEBS Letters, EarlyView.Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa +2 more
wiley +1 more source