Results 31 to 40 of about 2,937,536 (254)

An ACE2 Triple Decoy that neutralizes SARS-CoV-2 shows enhanced affinity for virus variants

Scientific Reports, 2021
The SARS-CoV-2 variants replacing the first wave strain pose an increased threat by their potential ability to escape pre-existing humoral protection. An angiotensin converting enzyme 2 (ACE2) decoy that competes with endogenous ACE2 for binding of the ...
Shiho Tanaka, Gard Nelson, C. Anders Olson, Oleksandr Buzko, Wendy Higashide, Annie Shin, Marcos Gonzalez, Justin Taft, Roosheel Patel, Sofija Buta, Ashley Richardson, Dusan Bogunovic, Patricia Spilman, Kayvan Niazi, Shahrooz Rabizadeh, Patrick Soon-Shiong   +15 more
doaj   +1 more source

EBMT/ESID inborn errors working party guidelines for hematopoietic stem cell transplantation for inborn errors of immunity

Bone Marrow Transplantation, 2021
A. C. Lankester 1, M. H. Albert , C. Booth, A. R. Gennery, T. Güngör , M. Hönig , E. C. Morris, D. Moshous , B. Neven, A. Schulz , M. Slatter, P.
A. Lankester, M. Albert, C. Booth, A. Gennery, T. Güngör, M. Hönig, E. Morris, D. Moshous, B. Neven, A. Schulz, M. Slatter, P. Veys   +11 more
semanticscholar   +1 more source

Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder

Frontiers in Genetics, 2021
IntroductionAutism spectrum disorder (ASD) is characterized by deficits in communication, social interaction, and repetitive behavior. Up to 70% of ASD cases are linked with intellectual disability (ID).
Johannes Krämer, Meinrad Beer, Harald Bode, Benedikt Winter   +3 more
doaj   +1 more source

Outcome of SARS-CoV-2 Infection in 121 Patients with Inborn Errors of Immunity: A Cross-Sectional Study

Journal of Clinical Immunology, 2021
There is still scarce data on SARS-CoV-2 infection in patients with Inborn Errors of Immunity (IEI) and many unresolved questions. We aimed to describe the clinical outcome of SARS-CoV-2 infection in Brazilian IEI patients and identify factors ...
E. Goudouris, F. Pinto-Mariz, L. Mendonça, C. Aranda, R. Guimarães, C. Kokron, M. Barros, Flávia Anísio, M. L. Alonso, Fernanda Marcelino, S. Valle, Sergio Dortas Junior, Irma Cecília Douglas Paes Barreto, J. F. Ferreira, P. Roxo-Junior, Almerinda Maria do Rego Silva, F. L. Campinhos, C. Bonfim, G. Loth, J. Fernandes, J. Garcia, A. Capelo, O. A. Takano, M. I. V. Nadaf, E. Toledo, L. Cunha, Regina Sumiko Watanabe Di Gesu, Laire Schidlowski, Priscila Fillipo, Daniélli C. Bichuetti-Silva, Gustavo Soldateli, N. Ferraroni, Ellen de Oliveira Dantas, S. Pestana, Eli Mansour, R. G. Ulaf, Carolina Prando, A. Condino-Neto, A. Grumach   +38 more
semanticscholar   +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

Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention

Frontiers in Neuroscience, 2021
Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated with inborn errors of metabolism, such as disorders of amino acid metabolism and transport [phenylketonuria, homocystinuria, S-adenosylhomocysteine hydrolase ...
T. Žigman, Danijela Petković Ramadža, G. Šimić, I. Barić   +3 more
semanticscholar   +1 more source

Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center

Orphanet Journal of Rare Diseases, 2018
The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM).
Olga Y. Echeverri, Johana M. Guevara, Ángela J. Espejo-Mojica, Andrea Ardila, Ninna Pulido, Magda Reyes, Alexander Rodriguez-Lopez, Carlos J. Alméciga-Díaz, Luis A. Barrera   +8 more
doaj   +1 more source

Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity

Cellular & Molecular Immunology, 2021
In addition to susceptibility to infections, conventional primary immunodeficiency disorders (PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as lymphoproliferative and/or autoimmune disease.
G. Sogkas, F. Atschekzei, I. R. Adriawan, Natalia Dubrowinskaja, T. Witte, R. Schmidt   +5 more
semanticscholar   +1 more source

The efficacy and safety of allogeneic stem cell transplantation in Mevalonate Kinase Deficiency [PDF]

, 2022
Objectives: Mevalonate kinase deficiency (MKD) is a rare autoinflammatory syndrome. Several reports have described allogeneic hematopoietic stem cell transplantation in severely affected patients, sometimes with promising results. In view of the scarcity
on behalf of the EBMT Inborn Errors Working Party
core  

Endocrinopathies in Inborn Errors of Immunity [PDF]

Frontiers in Immunology, 2021
Inborn errors of immunity (IEI), caused by hereditary or genetic defects, are a group of more than 400 disorders, in which the immune system, including lymphocytes, neutrophils, macrophages, and complements, does not function properly. The endocrine system is frequently affected by IEI as an associated clinical feature and a complex network of glands ...
Hirokazu Kanegane, Tomohiro Morio, Kei Takasawa, Kenichi Kashimada   +3 more
openaire   +4 more sources