Results 61 to 70 of about 16,445 (315)
Novel genetic variants of inborn errors of immunity.
PLoS ONE, 2021 ObjectivesInborn errors of immunity (IEI) are prevalent in tribal cultures due to frequent consanguineous marriages. Many of these disorders are autosomal recessive, resulting from founder mutations; hence they are amenable to prevention.
Farida Almarzooqi +3 more
doaj +1 more source
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe [PDF]
, 2013 Background: Chronic mucocutaneous candidiasis disease (CMCD) may result from various inborn errors of interleukin (IL)-17-mediated immunity. Twelve of the 13 causal mutations described to date affect the coiled-coil domain (CCD) of STAT1.
Adrien Katalin Sarkadi +66 more
core +1 more source
Rheumatological manifestations in inborn errors of immunity [PDF]
Pediatric Research, 2019 Rare monogenetic diseases serve as natural models to dissect the molecular pathophysiology of the complex disease traits. Rheumatologic disorders by their nature are considered complex diseases with partially genetic origin, as illustrated by their heterogeneous genetic background and variable phenotypic presentation.
Sevgi, Köstel Bal +3 more
openaire +2 more sources
Inborn Errors of Immunity With Immune Dysregulation: From Bench to Bedside
Frontiers in Pediatrics, 2019 Inborn errors of immunity are genetic disorders with broad clinical manifestations, ranging from increased susceptibility to infections to significant immune dysregulation, often leading to multiple autoimmune phenomena, lymphoproliferation, and ...
Ottavia Maria Delmonte +5 more
doaj +1 more source
F1000Research, 2020 The technological advances in diagnostics and therapy of primary immunodeficiency are progressing at a fast pace. This review examines recent developments in the field of inborn errors of immunity, from their definition to their treatment.
Giorgia Bucciol, Isabelle Meyts
doaj +1 more source
Historic landmarks in clinical transplantation: Conclusions from the consensus conference at the University of California, Los Angeles [PDF]
, 2000 The transplantation of organs, cells, and tissues has burgeoned during the last quarter century, with the development of multiple new specialty fields.
Brent, LB +11 more
core +1 more source
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies [PDF]
, 2018 Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification of the inborn errors of immunity.
AA Bousfiha +25 more
core +4 more sources
Microphysiological Systems of Lymphatics and Immune Organs
Advanced Healthcare Materials, EarlyView.This review surveys recent progress in engineering lymphatic microenvironments and immune organoids within microphysiological systems, emphasizing innovative strategies to recreate the biochemical and biophysical complexity of native lymphatic tissues.
Ishita Jain +2 more
wiley +1 more source
, 2018 Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core +1 more source
Genome editing for inborn errors of metabolism: advancing towards the clinic [PDF]
, 2017 Inborn errors of metabolism (IEM) include many disorders for which current treatments aim to ameliorate disease manifestations, but are not curative.
Bao, Gang +3 more
core +1 more source