Results 41 to 50 of about 4,846,243 (320)

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

, 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.
Atschekzei, Faranaz, Adriawan, Ignatius Ryan, Schmidt, Reinhold Ernst, Dubrowinskaja, Natalia, Witte, Torsten, Sogkas, Georgios, Ignatius Ryan Adriawan, Torsten Witte, Natalia Dubrowinskaja, Georgios Sogkas, Faranaz Atschekzei, Reinhold Ernst Schmidt   +11 more
core   +1 more source

Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases

Genetics and Molecular Biology, 2019
Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA).
T. Vieira, F. Trapp, C. F. D. de Souza, L. Faccini, L. Jardim, I. Schwartz, M. Riegel, C. Vargas, M. Burin, S. Leistner-Segal, P. Ashton-Prolla, R. Giugliani   +11 more
semanticscholar   +1 more source

Mutations in SRD5B1 (AKR1D1), the gene encoding Delta(4)-3-oxosteroid 5 beta-reductase, in hepatitis and liver failure in infancy [PDF]

, 2003
Background: A substantial group of patients with cholestatic liver disease in infancy excrete, as the major urinary bile acids, the glycine and taurine conjugates of 7alpha-hydroxy-3-oxo-4-cholenoic acid and 7alpha, 12alpha-dihydroxy-3- oxo-4-cholenoic ...
Duran, M., Scambler, PJ, Custard, E. J., Bouquet, J, Lemonde, H. A., Clayton, P. T., Duran, M, Overmars, H, Bouquet, J., Scambler, P.J., Lemonde, H., Clayton, P.T., Custard, EJ, Scambler, P. J., Clayton, PT, Lemonde, HA, Custard, E.J., Overmars, H.   +17 more
core   +2 more sources

Practical recommendations for the transition to adulthood for the adolescent with a genetic diagnosis. Special emphasis on inborn errors of metabolism

Translational Science of Rare Diseases, 2019
Taken as a group, genetic disorders affect a significant proportion of the population. Historically thought of as pediatric disorders, inborn errors of metabolism (IEM) are becoming increasingly relevant to the adult clinical provider; given the ...
M. D. De Castro, C. Turner, B. Kirmse
semanticscholar   +1 more source

Personalized hematopoietic stem cell transplantation for inborn errors of immunity

Frontiers in Immunology, 2023
Patients with inborn errors of immunity (IEI) have been transplanted for more than 50 years. Many long-term survivors have ongoing medical issues showing the need for further improvements in how hematopoietic stem cell transplantation (HSCT) is performed
M. Slatter, S. Lum
semanticscholar   +1 more source

Advances in CRISPR/Cas gene therapy for inborn errors of immunity

Frontiers in Immunology, 2023
Inborn errors of immunity (IEIs) are a group of inherited disorders caused by mutations in the protein-coding genes involved in innate and/or adaptive immunity.
Xin-Yi Liu, Guang-Lei Li, Yin Liu, Fu-Ling Zhou, Xingxu Huang, Kui Li   +5 more
semanticscholar   +1 more source

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients

, 2021
Inborn errors of immunity (IEI) include a large group of inherited diseases sharing either poor, dysregulated, or absent and/or acquired function in one or more components of the immune system. Next-generation sequencing (NGS) has driven a rapid increase
Francesca Fioredda, Daniela Guardo, Alice Grossi, Stefano Volpi, Carlo Dufour, Francesco Caroli, Marco Gattorno, Elena Palmisani, Maurizio Miano, Giuseppe Santamaria, Paola Terranova, Isabella Ceccherini, Marina Lanciotti, Roberta Caorsi   +13 more
core   +1 more source

The human genetic determinism of life-threatening infectious diseases: genetic heterogeneity and physiological homogeneity?

Human Genetics, 2020
Multicellular eukaryotes emerged late in evolution from an ocean of viruses, bacteria, archaea, and unicellular eukaryotes. These macroorganisms are exposed to and infected by a tremendous diversity of microorganisms. Those that are large enough can even
J. Casanova, L. Abel
semanticscholar   +1 more source

α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms

Orphanet Journal of Rare Diseases
Background α-mannosidosis is an inborn error of metabolism caused by the deficiency of the lysosomal enzyme α-mannosidase, which is encoded by the MAN2B1 gene and inherited in an autosomal recessive manner.
Maryana Marins, Marco Antonio Curiati, Caio Perez Gomes, Renan Paulo Martin, Priscila Nicolicht-Amorim, Joyce Umbelino da Silva Yamamoto, Vânia D’Almeida, Ana Maria Martins, João Bosco Pesquero   +8 more
doaj   +1 more source

Gene- and Disease-Based Expansion of the Knowledge on Inborn Errors of Immunity

Frontiers in Immunology, 2019
The recent report of the International Union of Immunological Societies (IUIS) has provided the categorized list of 354 inborn errors of immunity. We performed a systematic analysis of genes and diseases from the IUIS report with the use of the OMIM ...
Lyubov E. Salnikova, Lyubov E. Salnikova, Lyubov E. Salnikova, Ekaterina V. Chernyshova, Lyudmila A. Anastasevich, Sergey S. Larin   +5 more
doaj   +1 more source