10 documents found, page 1 of 1
Whole Exome Sequencing in Children With Type 1 Diabetes Before Age 6 Years Reve...
Ribeiro, Andreia Fiúza; Fitas, Ana Laura; Pires, Marcela Oliveira; Matoso, Paula; Ligeiro, Dário; Sobral, Daniel; Penha-Gonçalves, CarlosAims: This study is aimed at comparing whole exome sequencing (WES) data with the clinical presentation in children with type 1 diabetes onset ≤ 5 years of age (EOT1D). Methods: WES was performed in 99 unrelated children with EOT1D with subsequent analysis to identify potentially deleterious rare variants in MODY genes. High-resolution HLA class II haplotyping, SNP genotyping, and T1D-genetic risk score (T1D-GR...
The Rare DRB1*04:08-DQ8 Haplotype is the Main HLA Class II Genetic Driver and D...
Caramalho, Iris; Matoso, Paula; Ligeiro, Dário; Paixão, Tiago; Sobral, Daniel; Fitas, Ana Laura; Limbert, Catarina; Demengeot, JocelyneIntroduction: Early-onset Type 1 diabetes (EOT1D) is considered a disease subtype with distinctive immunological and clinical features. While both Human Leukocyte Antigen (HLA) and non-HLA variants contribute to age at T1D diagnosis, detailed analyses of EOT1D-specific genetic determinants are still lacking. This study scrutinized the involvement of the HLA class II locus in EOT1D genetic control. Methods: We c...
Genetic variation in PFKFB3 impairs antifungal immunometabolic responses and pr...
Gonçalves, Samuel M.; Antunes, Daniela; Leite, Luis; Mercier, Toine; Horst, Rob Ter; Vieira, Joana; Espada, Eduardo; Pinho Vaz, Carlos; Branca, RosaActivation of immune cells in response to fungal infection involves the reprogramming of their cellular metabolism to support antimicrobial effector functions. Although metabolic pathways such as glycolysis are known to represent critical regulatory nodes in antifungal immunity, it remains undetermined whether these are differentially regulated at the interindividual level. In this study, we identify a key role...
Suppression by allogeneic-specific regulatory T cells is dependent on the degre...
Bianchi, Joana; Vieira, Ana I. S.; Ligeiro, Dário; Azevedo, Rita I.; Lacerda, JoãoRegulatory T cell (Treg) infusion for graft-versus-host disease treatment has been increasingly investigated. However, polyclonal Treg may suppress the desired graft-versus-leukemia effect. Although allogeneic-specific (allo-specific) Treg may provide a more-targeted graft-versus-host disease treatment, there is the need to develop easily translatable expansion protocols and to better characterize their specifi...
PTX3 Polymorphisms Influence Cytomegalovirus Reactivation After Stem-Cell Trans...
Campos, Cláudia F.; Leite, Luís; Pereira, Paulo; Vaz, Carlos Pinho; Branca, Rosa; Campilho, Fernando; Freitas, Fátima; Ligeiro, Dário; Marques, AntónioBackground: Reactivation of latent human cytomegalovirus (CMV) in patients undergoing allogeneic stem-cell transplantation (HSCT) predisposes to several clinical complications and is therefore a major cause of morbidity and mortality. Although pentraxin-3 (PTX3) has been previously described to bind both human and murine CMV and mediate several host antiviral mechanisms, whether genetic variation in the PTX3 lo...
PTX3 polymorphisms influence cytomegalovirus reactivation after stem-cell trans...
Campos, Cláudia F.; Leite, Luís; Pereira, Paulo; Vaz, Carlos Pinho; Branca, Rosa; Campilho, Fernando; Freitas, Fátima; Ligeiro, Dário; Marques, AntónioBackground: Reactivation of latent human cytomegalovirus (CMV) in patients undergoing allogeneic stem-cell transplantation (HSCT) predisposes to several clinical complications and is therefore a major cause of morbidity and mortality. Although pentraxin-3 (PTX3) has been previously described to bind both human and murine CMV and mediate several host antiviral mechanisms, whether genetic variation in the PTX3 lo...
IL-7-induced proliferation of human naive CD4 T-cells relies on continued thymi...
Silva, Susana L.; Albuquerque, Adriana S.; Matoso, Paula; Charmeteau-de-Muylder, Bénédicte; Cheynier, Rémi; Ligeiro, Dário; Abecasis, Miguel; Anjos, RuiNaive CD4 T-cell maintenance is critical for immune competence. We investigated here the fine-tuning of homeostatic mechanisms of the naive compartment to counteract the loss of de novo CD4 T-cell generation. Adults thymectomized in early childhood during corrective cardiac surgery were grouped based on presence or absence of thymopoiesis and compared with age-matched controls. We found that the preservation of...
IL-10 overexpression predisposes to invasive aspergillosis by suppressing antif...
Cunha, Cristina; Gonçalves, Samuel M.; Duarte-Oliveira, Cláudio; Leite, Luís; Lagrou, Katrien; Marques, António; Lupiañez, Carmen B.; Mesquita, InêsProinflammatory immune responses are critically required for antimicrobial host defenses; however, excessive inflammation has the potential to damage host tissues thereby paradoxically contributing to the progression of infection. A central negative regulator of inflammatory responses is IL-10, an immunosuppressive cytokine with a wide variety of functions across multiple cell types. Although the role of IL-10 ...
Characterization of the major histocompatibility complex locus association with...
Xavier, Joana M; Davatchi, Fereydoun; Abade, Olga; Shahram, Farhad; Francisco, Vânia; Abdollahi, Bahar Sadeghi; Trindade, Hélder; Nadji, AbdolhadiIntroduction: The aim of this study was to characterize the association of human leukocyte antigen (HLA) B alleles and major histocompatibility complex (MHC) single nucleotide polymorphisms (SNPs) with Behçet's disease (BD) in an Iranian dataset. Methods: The association of three SNPs in the MHC region previously identified as the most associated in high-density genotyping studies was tested in a case-control s...
HLA Allele and Haplotype Frequencies of the Portuguese Bone Marrow Donors Registry
São João, Ricardo; Papoila, Ana Luisa; Ligeiro, Dário; Trindade, HélderGenes in human leucocyte antigens (HLA) System are important in the study of autoimmune diseases and responsible for the rejection of transplants of organs and tissues. HLA genes are part of the human major histocompatibility complex (MHC) which is characterized by the presence of several multigene families, extensive polymorphism at many loci and significant linkage disequilibrium between alleles at particular...