Results 91 to 100 of about 15,568 (286)

Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells [PDF]

, 2012
In the course of primary infection with herpes simplex virus 1 (HSV-1), children with inborn errors of TLR3 immunity are prone to HSV-1 encephalitis (HSE) 1–3.
Abel, Laurent, Abhyankar, Avinash, Al-Muhsen, Saleh, Casanova, Jean-Laurent, Ciancanelli, Michael J., Daley, George Quentin, Elkabetz, Yechiel, Goldstein, Peter A., Herman, Melina, Jouanguy, Emmanuelle, Keros, Sotirios, Lafaille, Fabien G, Mostoslavsky, Gustavo, Notarangelo, Luigi D., Ordovas-Montanes, Jose Manuel, Pessach, Itai M., Plancoulaine, Sabine, Schlaeger, Thorsten M., Studer, Lorenz, Tardieu, Marc, Tu, Edmund, Ying, Shui-Wang, Zhang, Shen-Ying   +22 more
core   +1 more source

Two‐Dimensional Piezoelectric Nanomaterials for Nanoelectronics and Energy Harvesting

ENERGY &ENVIRONMENTAL MATERIALS, EarlyView.
Two‐Dimensional Piezoelectric Nanomaterials from properties to applications. Smart materials, especially piezoelectric materials, have gained popularity over the last two decades. Two‐dimensional (2D) piezoelectric materials exhibit attributes including great flexibility, ease of workability, extensive surface area, and many active sites, indicating ...
Yujun Cao, Sikandar Aftab, Zeeshan Ali, Muhammad Farooq Khan, Ghazanfar Nazir, Awais Khalid, Hosameldin Helmy Hegazy, Ibrahim S. Yahia, Altaf Hussain Rajpar, Burragoni Sravanthi Goud, Jae Hong Kim, Erdi Akman, Xin Li   +12 more
wiley   +1 more source

Human inborn errors of immunity: diagnosis and management [PDF]

Exploration of Immunology
Primary immunodeficiency disease (PID) now known as inborn errors of immunity (IEI) is genetic disorder(s) that impair the immune system. IEI is a heterogeneous group of diseases of more than 485 lifelong genetic disorders mainly due to intrinsic defect ...
Iftekhar Mahmood
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Cryohydrocytosis: When Cold Breaks the Membrane

American Journal of Hematology, EarlyView.
Athina Ntoumaziou, Mary Risinger, Yasmin Elgammal, Wenying Zhang, Theodosia A. Kalfa, Luke R. Smart   +5 more
wiley   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

Consanguinity and polygenic diseases: a model for antibody deficiencies [PDF]

, 2014
Primary immunodeficiencies represent a heterogeneous group of disorders of the immune system, predisposing to various types of infections. Among them, common variable immunodeficiency is the most common symptomatic antibody deficiency.
Angelino, G, Cancrini, C, Di Pierro, V, Ferrari, S, Finocchi, A, Rossi, P, Zuntini, R   +6 more
core   +2 more sources

Red flags to suspect inborn errors of immunity in patients with autoimmune diseases

Biomédica: revista del Instituto Nacional de Salud
Inborn errors of immunity are monogenic disorders that predispose patients to immune dysregulation, autoimmunity, and infection. Some autoimmune diseases, such as autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases, are ...
Natalia Vélez, Juliette De Ávila, Jaime Cortés, Nelson Barrero, Leosirlay Rojas, Juan Manuel Bello, Consuelo Romero-Sánchez   +6 more
doaj   +1 more source

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   +1 more source