Results 51 to 60 of about 15,568 (286)

Inborn Errors of Immunity: how to diagnose them?

Jornal de Pediatria, 2021
Objectives: Inborn Errors of Immunity are characterized by infectious conditions and manifestations of immune dysregulation. The diversity of clinical phenotypes can make it difficult to direct the laboratory investigation.
Anete Sevciovic Grumach, Ekaterini Simões Goudouris   +1 more
doaj   +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, Lee, Ciaran M, Schneller, Jessica L, Venditti, Charles P   +3 more
core   +1 more source

Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation [PDF]

, 2020
Susceptibility to herpes simplex virus type 1 (HSV-1) encephalitis (HSE-1) in otherwise healthy individuals, in the course of primary infection, can be caused by single-gene inborn errors of Toll-like receptor 3 (TLR3) dependent, interferon (IFN)-alpha ...
Casanova, Jean-Laurent, Chen, Jie, Glumoff, Virpi, Hautala, Timo, Huuskonen, Usko, Kraatari, Minna, Kuismin, Outi, Lehtonen, Johanna, Lorenzo, Lazaro, Partanen, Terhi, Saarela, Janna, Seppänen, Mikko R. J., Tervonen, Laura, Vuorinen, Tytti, Winqvist, Satu, Zhang, Shen-Ying, Åström, Pirjo   +16 more
core   +2 more sources

HPV-Related Skin Phenotypes in Patients with Inborn Errors of Immunity

Pathogens, 2022
Patients with inborn errors of immunity (IEI) are prone to develop infections, either due to a broad spectrum of pathogens or to only one microbe. Since skin is a major barrier tissue, cutaneous infections are among the most prevalent in patients with ...
Assiya El Kettani, Fatima Ailal, Jalila El Bakkouri, Khalid Zerouali, Vivien Béziat, Emmanuelle Jouanguy, Jean-Laurent Casanova, Ahmed Aziz Bousfiha   +7 more
doaj   +1 more source

Human Inborn Errors of Immunity : 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee [PDF]

, 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

Unraveling the Molecular Mechanisms of Glioma Recurrence: A Study Integrating Single‐Cell and Spatial Transcriptomics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glioma recurrence severely impacts patient prognosis, with current treatments showing limited efficacy. Traditional methods struggle to analyze recurrence mechanisms due to challenges in assessing tumor heterogeneity, spatial dynamics, and gene networks.
Lei Qiu, Yinjiao Fei, Jiaxuan Ding, Kexin Shi, Jinyan Luo, Yuchen Zhu, Xingjian Sun, Gefei Jiang, Yuandong Cao, Weilin Xu, Shu Zhou   +10 more
wiley   +1 more source

ADA2-deficient cells exhibit increased levels of cell death and metabolic disturbances

Cell Death Discovery
Deficiency of adenosine deaminase 2 (DADA2) causes a complex phenotype of autoinflammation and immunodeficiency. Bone marrow failure is often refractory to treatment with tumour necrosis factor-alpha (TNF-alpha) inhibitors and additional treatment ...
Lisa Ehlers, Marjon Wouters, Bethany Pillay, Selket Delafontaine, Giorgia Bucciol, Marco Baggio, Mariia Dzhus, Anneleen Hombrouck, Alexandra Damerau, Lien De Somer, Rik Schrijvers, Steven Vanderschueren, Maarten Jacquemyn, Tilmann Kallinich, Dirk Daelemans, Bart Ghesquière, Patrizia Agostinis, Leen Moens, Isabelle Meyts   +18 more
doaj   +1 more source

Orotic Aciduria [PDF]

, 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

Computational Modeling Meets 3D Bioprinting: Emerging Synergies in Cardiovascular Disease Modeling

Advanced Healthcare Materials, EarlyView.
Emerging advances in three‐dimensional bioprinting and computational modeling are reshaping cardiovascular (CV) research by enabling more realistic, patient‐specific tissue platforms. This review surveys cutting‐edge approaches that merge biomimetic CV constructs with computational simulations to overcome the limitations of traditional models, improve ...
Tanmay Mukherjee, Mehdi Salar Amoli, Sarah Rezapourdamanab, Lama Rita El Shammas, Martin L. Tomov, Emilio A. Mendiola, Vahid Serpooshan, Reza Avazmohammadi   +7 more
wiley   +1 more source

Cap‐oPMN: Oral Inflammatory Load Quantification Using Capillary Microfluidics and Automated Image Processing

Advanced Materials Technologies, EarlyView.
ABSTRACT Quantifying oral polymorphonuclear neutrophils (oPMNs) is a clinically validated approach for assessing periodontal inflammation. However, current methods, such as manual hemocytometry and flow cytometry, are time‐consuming (>3 h), require invasive sampling, and depend on staining and complex instrumentation, making them unsuitable for point ...
Mohsen Hassani, Azam Zare, Fatemeh Soheili, S. M. Mahdi H. Daneshvar, Mahdi Amrollahi Biouki, Yasaman Tahernezhad, Chunxiang Sun, Michael Glogauer, Ebrahim Ghafar‐Zadeh, Amir Sanati‐Nezhad   +9 more
wiley   +1 more source