Publications by authors named "J I Gallin"
Article Synopsis
- - Chediak-Higashi syndrome (CHS) is a rare genetic disorder marked by symptoms like skin and eye color changes, bleeding issues, immune dysfunction, and neurological problems, caused by loss-of-function variants in a specific gene involved in lysosomal regulation.
- - The study involved clinical evaluations of CHS patients and genomic analysis which led to the discovery of 11 new pathogenic variants, along with a review that compiled a total of 147 known variants, categorizing them based on their types and effects.
- - The findings suggest a correlation between the type of genetic variants and disease severity, indicating that those with milder disease often have certain types of variants, while those with more severe symptoms have specific nonsense or frameshift mutations.*
NADPH oxidases (NOX's), and the reactive oxygen species (ROS) they produce, play an important role in host defense, thyroid hormone synthesis, apoptosis, gene regulation, angiogenesis and other processes. However, overproduction of ROS by these enzymes is associated with cardiovascular disease, fibrosis, traumatic brain injury (TBI) and other diseases. Structural similarities between NOX's have complicated development of specific inhibitors.
View Article and Find Full Text PDFGastrointestinal and Hepatic Manifestations of Chronic Granulomatous Disease.
J Allergy Clin Immunol Pract
May 2023
Chronic granulomatous disease (CGD) is a rare inborn error of immunity, resulting from a defect in nicotinamide adenine dinucleotide phosphate oxidation and decreased production of phagocyte reactive oxygen species. The main clinical manifestations are recurrent infections and chronic inflammatory disorders. Current approaches to management include antimicrobial prophylaxis and control of inflammatory complications.
View Article and Find Full Text PDFChronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe, recurrent bacterial and fungal infections. The disease is caused by mutations in the genes encoding the components of the leukocyte NADPH oxidase.
View Article and Find Full Text PDFChronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe bacterial and fungal infections. The disease is caused by a lack of superoxide production by the leukocyte enzyme NADPH oxidase.
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