Results 1 to 10 of about 641,078 (293)

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

Current genetic diagnostics in inborn errors of immunity

Frontiers in Pediatrics
New technologies in genetic diagnostics have revolutionized the understanding and management of rare diseases. This review highlights the significant advances and latest developments in genetic diagnostics in inborn errors of immunity (IEI), which ...
Sandra von Hardenberg, Isabel Klefenz, Doris Steinemann, Nataliya Di Donato, Ulrich Baumann, Bernd Auber, Christian Klemann, Christian Klemann   +7 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
doaj   +2 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, F. Kronenberg, K.-U. Eckardt, F. 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

Emphasized the diagnosis and therapy of curative neurogenetic diseases

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
In recent years, great progress has been made in the treatment of neurogenetic diseases. Specific drugs have been used to treat diseases that were uncurable in the past, and there are noteworthy curative effects.
ZHANG Cheng
doaj   +1 more source

Dysbiosis, Host Metabolism, and Non-communicable Diseases: Trialogue in the Inborn Errors of Metabolism

Frontiers in Physiology, 2021
Inborn errors of metabolism (IEMs) represent a complex system model, in need of a shift of approach exploring the main factors mediating the regulation of the system, internal or external and overcoming the traditional concept of biochemical and genetic ...
C. Montanari, S. Parolisi, E. Borghi, L. Putignani, G. Bassanini, J. Zuvadelli, Cristina Bonfanti, Albina Tummolo, C. Dionisi Vici, Giacomo Biasucci, A. Burlina, M. T. Carbone, E. Verduci   +12 more
semanticscholar   +1 more source

Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India

Indian Journal of Pediatrics, 2021
To study the incidence, clinical manifestations, and genetic spectrum of primary immunodeficiency diseases (PID)/inborn errors of immunity (IEI) in a tertiary care hospital in Southern India.
H. Lashkari, M. Madkaikar, A. Dalvi, Maya Gupta, J. Bustamante, Madhubala Sharma, A. Rawat, P. Bhatia, K. Bhat, Sadashiva Rao, N. Kamath, Faheem Moideen, S. Latour, Sarah Winter, G. Bhavani, K. Girisha   +15 more
semanticscholar   +1 more source