Results 91 to 100 of about 733,986 (259)
Frontiers in Immunology, 2018 Background: Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome is a rare recessive disorder caused by mutations in the FOXP3 gene. In addition, there has been an increasing number of patients with wild-type FOXP3 gene and, in
Eleonora Gambineri +13 more
doaj +1 more source
Immunodeficiency and Autoimmune Enterocolopathy Linked to NFAT5 Haploinsufficiency [PDF]
, 2015 The link between autoimmune diseases and primary immunodeficiency syndromes has been increasingly appreciated. Immunologic evaluation of a young man with autoimmune enterocolopathy and unexplained infections revealed evidence of immunodeficiency ...
Murray, Joseph A +22 more
core +1 more source
Arthritis Care &Research, Accepted Article.Objective We describe the frequency, risk factors, severity, and management of actionable and serious adverse events (AAE and SAE) in children with newly diagnosed Juvenile Idiopathic Arthritis (JIA) in Canada. Methods We enrolled patients within 3 months of JIA diagnosis in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry,
Bashayer Alnuaimi +10 more
wiley +1 more source
Mutations in the _SC4MOL_ gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay [PDF]
, 2008 Disorders of cholesterol biosynthesis have clinical manifestations involving skeleton, eyes, neurologic development, and skin. We describe a patient with congenital cataracts, developmental delay, microcephaly, and low serum cholesterol who developed ...
Jushua Michel +8 more
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Arthritis Care &Research, EarlyView.Objective Reproductive‐age women with systemic autoimmune and rheumatic diseases (SARDs) have unique information needs related to their SARDs and reproductive health. We sought to understand their use of and receptivity to current and hypothetical generative artificial intelligence (AI) tools for health information‐seeking. Methods We conducted a cross‐
Mariam Arif +5 more
wiley +1 more source
Jornal Brasileiro de Pneumologia, 2009 As imunodeficiências primárias são um grupo de doenças geneticamente heterogêneas que afetam diferentes componentes da imunidade inata e adaptativa, como neutrófilos, macrófagos, células dendríticas, proteínas do sistema complemento, células natural ...
Pérsio Roxo Júnior
doaj +1 more source
Protein and cell therapy for lecithin-cholesterol acyltransferase (LCAT) deficiency [PDF]
, 2009 Lecithin-cholesterol acyltransferase (LCAT) is an enzyme principally secreted by the liver into the circulation where it esterifies cholesterol and plays a key role in high- density lipoprotein (HDL) metabolism. In familial and acquired (liver disease)
Low, J K, Low, J.K.
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Advanced Science, EarlyView.The adipocyte MKK3–p38β axis emerges as an adaptive stress‐response pathway during obesity. Human visceral adipose tissue analyses, adipocyte‐specific mouse models, and primary adipocytes show that the MKK3–p38β axis supports insulin responsiveness by restraining p70S6K‐dependent inhibitory IRS1 feedback and preserving AKT–GLUT4 signaling. This pathway
Edgar Bernardo +20 more
wiley +1 more source
Advanced Science, EarlyView.Mesenchymal stromal cells (MSCs) show promise for treating immune‐related disorders through immunomodulation and tissue regeneration. This review gives a brief overview of current clinical approval of MSC therapies. It also discussed how bioengineering, including genetic modification, biomaterial delivery, extracellular vesicles, and iPSC‐derived MSCs,
Sichen Yang +6 more
wiley +1 more source