Results 1 to 10 of about 631,764 (332)

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, Annarosa Soresina, Laura Dotta, Chiara Gorio, Marco Cattalini, Vassilios Lougaris, Fulvio Porta, Raffaele Badolato   +7 more
doaj   +4 more sources

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, Bousfiha, Aziz, Cunningham-Rundles, Charlotte, Franco, Jose Luis, Holland, Steven M., Klein, Christoph, Meyts, Isabelle, Morio, Tomohiro, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Puel, Anne, Seppänen, Mikko R. J., Somech, Raz, Su, Helen C., Sullivan, Kathleen E., Tangye, Stuart G., Torgerson, Troy R.   +17 more
core   +2 more sources

Elevated IgE Levels—An Allergy or an Underlying Inborn Error of Immunity in Children with Recurrent Infections?

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, Vera Papochieva, Dimitrinka Miteva, Bilyana Georgieva, Sirma Mileva, Martin Shahid, Tsvetelin Lukanov, Guergana Petrova   +7 more
doaj   +2 more sources

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, Stefan Zdraljevic, Robyn E Tanny, Albertha J M Walhout, Erik C Andersen   +4 more
doaj   +3 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
doaj   +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, Magdy Hassan Balaha, Mohammed Saleh Al Moghannum, Ibrahim Hashim   +3 more
doaj   +5 more sources

A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China

World Journal of Pediatrics, 2023
Background Newborn screening (NBS) is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn diseases.
Ru-lai Yang, G. Qian, Ding-wen Wu, Jing-kun Miao, X. Yang, Ben-qing Wu, Yan Yan, Hai-bo Li, X. Mao, Jun He, Huan Shen, Hui Zou, Shu-Yuan Xue, Xiao-Ze Li, Ting-Ting Niu, Rui Xiao, Zheng-Yan Zhao   +16 more
semanticscholar   +1 more source

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China

Molecular Genetics & Genomic Medicine, 2023
The incidence of inborn errors of metabolism (IEM) varies across countries and areas. Currently, there are no studies on IEM using newborn screening (NBS) in eastern coastal areas of China.
Shuai Men, Shuang Liu, Qin Zheng, Shuting Yang, Huafen Mao, Zhiwei Wang, Ying Gu, Xinxin Tang, Leilei Wang   +8 more
semanticscholar   +1 more source

Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

Nature Communications, 2021
Metabolite levels in urine may provide insights into genetic mechanisms shaping their related pathways. We therefore investigate the cumulative contribution of rare, exonic genetic variants on urine levels of 1487 metabolites and 53,714 metabolite ratios
Yurong Cheng, P. Schlosser, Johannes Hertel, P. Sekula, P. Oefner, U. Spiekerkoetter, J. Mielke, Daniel F. Freitag, M. Schmidts, Peter J. Florian Kai-Uwe Oefner Kronenberg Eckardt, Florian Kronenberg, K.-U. Eckardt, Florian Kronenberg, K.-U. Eckardt, I. Thiele, Yong Li, A. Köttgen   +16 more
semanticscholar   +1 more source

Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report

Italian Journal of Pediatrics, 2022
Background Albright’s hereditary osteodystrophy (AHO) is an inherited disorder which is caused by an inactivating variant in the GNAS gene. AHO appears associated to either pseudohypoparathyroidism 1a (PHP1a) when GNAS gene is maternally inherited or to ...
Qing Zhou, Bin Liang, Qing-Xian Fu, Hui Liu, Chao-Chun Zou   +4 more
doaj   +1 more source