Novel NCF2 Mutation Causing Chronic Granulomatous Disease
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-020-00820-8
Abstract: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder caused by defects in the NADPH oxidase complex. Mutations in NCF2 encoding the cytosolic factor p67phox result in autosomal recessive CGD. We describe three patients… read more here.
Keywords: mutation; granulomatous disease; chronic granulomatous; ncf2 mutation ... See more keywords
A novel ACTA1 mutation causing progressive facioscapuloperoneal myopathy in an adult
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2018.04.044
Abstract: We report a 58-year-old woman with slowly progressive facio-scapulo-peroneal muscle weakness due to congenital nemaline myopathy (NM) caused by a novel ACTA1 mutation (c.118A>G, p.Met271Val). In adult patients, congenital NM should be distinguished from sporadic… read more here.
Keywords: adult; acta1 mutation; muscle; novel acta1 ... See more keywords
Novel mutation causing propionic acidemia associated with unexplained autoimmune thyrotoxicosis
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2021.100806
Abstract: Propionic acidemia (PA) is a rare autosomal recessive inborn error of metabolism (IEM) with relatively higher prevalence in the United Arab Emirates (UAE). Absence of propionyl-CoA carboxylase (PCC) enzyme classically leads to acute decompensation in… read more here.
Keywords: thyrotoxicosis; novel mutation; causing propionic; propionic acidemia ... See more keywords
Novel mutation causing congenital disorder of glycosylation in a child with recurrent anasarca
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-245884
Abstract: Protein-losing enteropathy entails an excessive loss of proteins in intestinal tract due to underlying primary or secondary pathologies. It is suspected in patients with chronic diarrhoea and peripheral oedema. Faecal alpha 1 antitrypsin clearance is… read more here.
Keywords: novel mutation; mutation causing; congenital disorder; glycosylation child ... See more keywords