Pathogenesis of Autoimmune Cytopenias in Inborn Errors of Immunity Revealing Novel Therapeutic Targets [PDF]
Frontiers in Immunology, 2022 Autoimmune diseases are usually associated with environmental triggers and genetic predisposition. However, a few number of autoimmune diseases has a monogenic cause, mostly in children.
Manuela Cortesi +7 more
doaj +4 more sources
Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories [PDF]
Annual Review of Pathology: Mechanisms of Disease, 2021 It was first demonstrated in the late nineteenth century that human deaths from fever were typically due to infections. As the germ theory gained ground, it replaced the old, unproven theory that deaths from fever reflected a weak personal or even familial constitution.
Laurent Abel +3 more
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Human Inborn Errors of Immunity : 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee [PDF]
Journal of Clinical Immunology, 2022 We report the updated classification of inborn errors of immunity, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 55 novel monogenic gene defects, and 1 ...
Al-Herz, Waleed +17 more
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Antibodies, 2023 Elevated immunoglobulin E (IgE) is a hallmark of allergic diseases. However, high IgE levels also occur in a number of other infectious and noninfectious diseases.
Polina Kostova +7 more
doaj +2 more sources
Metabolism as a complex genetic trait, a systems biology approach: Implications for inborn errors of metabolism and clinical diseases [PDF]
Journal of Inherited Metabolic Disease, 2008 SummaryMultifactorial and polygenic inheritance is commonly recognized for many genetic conditions including physical anomalies, complex congenital malformation syndromes, and even common disorders such as adult‐onset diabetes mellitus. It has only recently been suggested as a mechanism for inheritance in inborn errors of metabolism.
J. Vockley
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Natural variation in a glucuronosyltransferase modulates propionate sensitivity in a C. elegans propionic acidemia model. [PDF]
PLoS Genetics, 2020 Mutations in human metabolic genes can lead to rare diseases known as inborn errors of human metabolism. For instance, patients with loss-of-function mutations in either subunit of propionyl-CoA carboxylase suffer from propionic acidemia because they ...
Huimin Na +4 more
doaj +3 more sources
α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms [PDF]
Orphanet Journal of Rare DiseasesBackground α-mannosidosis is an inborn error of metabolism caused by the deficiency of the lysosomal enzyme α-mannosidase, which is encoded by the MAN2B1 gene and inherited in an autosomal recessive manner.
Maryana Marins +8 more
doaj +2 more sources
Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs
The Journal of Clinical Investigation, 2023 Since 2003, rare inborn errors of human type I IFN immunity have been discovered, each underlying a few severe viral illnesses. Autoantibodies neutralizing type I IFNs due to rare inborn errors of autoimmune regulator (AIRE)–driven T cell tolerance were ...
Jean-Laurent Casanova, Mark S. Anderson
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Human medicines European public assessment report (EPAR): Respreeza, alpha1-proteinase inhibitor (human), Genetic Diseases, Inborn,Lung Diseases, Date of authorisation: 20/08/2015, Revision: 6, Status: Authorised [PDF]
Case Medical Research, 2019 openaire +2 more sources
Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia [PDF]
The Pan African Medical Journal, 2011 BACKGROUND: Birth defects and inborn errors of metabolism are related to variable poor perinatal and neonatal outcomes. Our aim was to explore the pattern and prevalence of birth defects and metabolic birth errors in Al-Ahsa Governorate in the Eastern ...
Waleed Hamad Al Bu Ali +3 more
doaj +5 more sources