Identification of the Novel HLA-DPA1*01:214 Allele in a Brazilian Bone Marrow Donor.

A single nucleotide polymorphism, changing Phenylalanine to Leucine, differentiates HLA-DPA1*01:214 from HLA-DPA1*01:03:01:01.

Characterization of the Novel HLA-A*36:15 Allele by Next-Generation Sequencing and Oxford Nanopore Technology.

The new HLA-A*36:15 allele differs from A*36:01:01:01 at position -44 in exon 1.

Identification of the novel HLA-DRB3*03:69 allele by next-generation sequencing.

The new HLA-DRB3*03:69 allele differs from DRB3*03:01:01:03 by change of C → G in exon 3.

The novel HLA allele, HLA-DQB1*02:211, identified in a Brazilian bone marrow donor.

HLA-DQB1*02:211 allele differs from DQB1*02:02:01:02 by change of C → A in exon 2.

Identification of the novel HLA-DPB1*14:01:15 allele in a Brazilian bone marrow donor.

The novel HLA-DPB1*14:01:15 allele differs from DPB1*14:01:01:01 by change of C > T in exon 3.

Association between polymorphisms in , and genes and covid-19 severity in Southern Brazil.

Background: A distinct phenotype in Coronavirus disease 2019 (Covid-19) was observed in severe patients, consisting of a highly impaired interferon (IFN) type I response, an exacerbated inflammatory response.

Objective: The aim of the present study was to investigate a possible association of single nucleotide polymorphisms (SNPs), in five genes related to the immune response, rs3775291 in ; rs2292151 in ; rs1758566 in ; rs1800629 in , and rs1800795 in with the severity of Covid-19.

Methods: A cross-sectional study was performed, with non-severe and severe/critical patients diagnosed with Covid-19, by two public hospitals in Brazil.

The novel HLA-DPA1*01:182 allele identified in a Brazilian bone marrow donor.

The new HLA-DPA1*01:182 allele differs from HLA-DPA1*01:03:01:04 by a single mismatch in exon 4.

Two novel HLA-DRB3 alleles identified in Brazilian bone marrow donors: HLA-DRB3*01:122 and -DRB3*01:123.

We identified two new HLA-DRB3 alleles in Brazilian individuals using next generation sequencing.

The novel HLA-A*68:190:02 allele identified in a Brazilian bone marrow donor.

HLA-A*68:190:02 differs from A*68:190:01 by a single synonymous nucleotide change in exon 2.

Description of four new HLA-B alleles in Brazilian bone marrow donors.

Four new HLA-B alleles were identified in Brazilian individuals using next generation sequencing.

Killer cell immunoglobulin-like receptor (KIR) genes and their HLA ligands in a Brazilian population.

Killer cell immunoglobulin-like receptors (KIR) exhibit extensive diversity, giving rise to different KIR profiles in populations worldwide. This study aimed to investigate the distribution of KIR genes and HLA ligands in a population from Campinas, southeastern Brazil (n  =  292), and to compare their results with other populations. A comprehensive analysis of population-specific genes, genotype, and haplotype frequencies of KIR may facilitate a better understanding of their evolution and role in immunity.

Low-cost molecular methodology for blood group antigens identification and genotyping contribution to transfusion efficacy in multiple transfused patients.

Background: Blood transfusions usually result in the production of alloantibodies, complicating subsequent transfusions. Many blood group systems, in addition to ABO and Rh, can lead to the production of irregular antibodies in multiple transfused patients.

Objectives: The aim of this work was to standardize a molecular biology methodology for identified some alleles of KEL, FY, JK and DI blood group system; the transfusion efficacy of chronically transfused patients with phenotype-matched blood was also evaluated.

Metabolite variations in the sera of HIV+ patients after an oral administration of effervescent glutamine and in comparison to non-HIV individuals by NMR.

It was demonstrated that effervescent glutamine supplementation in HIV+ individuals treated with antiretroviral therapy (ART) increased CD4+ T lymphocytes, decreased inflammation biomarkers, and brought health benefits. This pilot study aimed to explore serum metabolite variations in the HIV+ group under ART after 30 days of supplementation with glutamine, and in comparison to the matched HIV- group. The group of HIV+ showed lower levels of choline, creatine, pyruvate, glutamate, lysine, and tyrosine when compared to the HIV- group.

Lack of association of the KIR and HLA class I ligands with ZIKV infection in south and southeast of Brazil.

Background: Zika virus (ZIKV) is an emerging arbovirus associated with foetal malformations and neurological complications. The infection is usually associated with mild symptoms. The comparison between the allelic frequency of polymorphic genes in symptomatic infected individuals in the population can clarify the pathogenic mechanisms of ZIKV.

, and Variants in Zika Virus Transmission from Mother to Child in a Population from South and Southeast of Brazil.

During the 2015-2016 epidemic, Brazil was the country with the highest rate of Zika virus (ZIKV) infection in the Americas. Twenty-nine percent of pregnant women positive for ZIKV exhibited ultrasound scans with fetus anomalies. Human leukocyte antigen-G (HLA-G) exerts immunoregulatory effects by binding to inhibitory receptors, namely LILRB1 and LILRB2, thus preventing mother-fetus rejection and vertical pathogen transmission.

COVID-19: The question of genetic diversity and therapeutic intervention approaches.

Coronavirus disease 2019 (COVID-19), caused by the Severe Acute Respiratory Syndrome Coronavirus type 2 (SARS-CoV-2), is the largest pandemic in modern history with very high infection rates and considerable mortality. The disease, which emerged in China's Wuhan province, had its first reported case on December 29, 2019, and spread rapidly worldwide. On March 11, 2020, the World Health Organization (WHO) declared the COVID-19 outbreak a pandemic and global health emergency.

Influence of (rs1800896) Polymorphism and TNF-α, IL-10, IL-17A, and IL-17F Serum Levels in Ankylosing Spondylitis.

Ankylosing spondylitis (AS) is a chronic autoimmune inflammatory disease that mainly affects the axial and sacroiliac joints. Single-nucleotide polymorphisms (SNPs) in genes encoding cytokines have been associated with AS, which can interfere with the production of these cytokines and contribute to the development of AS. In order to contribute to a better understanding of the pathology of AS, our objective was to investigate a possible association of the -1082 A>G SNP (rs1800896) with AS and to evaluate the serum levels of TNF-α, IL-10, IL-17A, and IL-17F in AS patients and controls comparing them with their respective genotypes ( rs1800629, rs1800896, rs2275913, and rs763780).

: A Possible Risk Marker for Spondyloarthritis in Negative Brazilian Patients.

is an important marker for spondyloarthritis (SpA), however, many SpA patients are negative. Thus, the aim of this study was to investigate the influence of , and gene polymorphisms in SpA patients who were negative. This case-control study was conducted in 158 patients [102 patients with ankylosing spondylitis (AS) and 56 with psoriatic arthritis (PsA)] and 184 controls.

Toll-like receptor gene polymorphisms in patients with myeloproliferative neoplasms.

Toll-like receptors (TLRs) are a family of transmembrane receptors whose signaling control cellular processes of cell proliferation, survival, apoptosis, angiogenesis, remodeling, and repair of tissues. Polymorphisms in TLR genes can change the balance between pro and anti-inflammatory cytokines, modulating the risk of infection, chronic inflammation, and cancer. Although many studies have demonstrated the direct involvement of TLR signaling in the benefit of tumor cells in certain cancers, little is known about the influence of these gene polymorphisms on myeloproliferative neoplasms (MPNs).

The Influence of Vitamin D Receptor Gene Polymorphisms in Spondyloarthritis.

Spondyloarthritis (SpA) is an inflammatory rheumatic disease related to low bone mineral density. Because vitamin D plays an important role in bone metabolism and immune system modulation, the aim of this study was to evaluate the influence of polymorphisms in vitamin D receptor genes () in the development of SpA. In this case-control study, a total of 244 patients with SpA and 197 individuals with no SpA were included.

Association of MICA and HLA-B alleles with leprosy in two endemic populations in Brazil.

Leprosy is a prevalent disease in Brazil, which ranks as the country with the second highest number of cases in the world. The disease manifests in a spectrum of forms, and genetic differences in the host can help to elucidate the immunopathogenesis. For a better understanding of MICA association with leprosy, we performed a case-control and a family-based study in two endemic populations in Brazil.

Optimization of HLA-B*27 ALLELE Genotyping by PCR-SSP.

Objectives: HLA-B27 is strongly associated with ankylosing spondylitis (AS) and its presence helps to confirm AS diagnosis. Due to the high HLA polymorphism and the differentiated contribution of alleles and molecules encoded by them, HLA-B*27 allele identification is relevant in the clinical follow-up, diagnosis, and treatment of this spondyloarthropathy. Inexpensive genotyping techniques with high specificity and sensitivity are of great interest in histocompatibility laboratories.

Two novel HLA-DRB1 alleles, DRB1*11:261 and DRB1*13:286 identified by sequencing in Brazilian individuals.

Two novel HLA alleles DRB1*11:261 and DRB1*13:286 have nonsynonymous mutations in exon 2.

Association of Exon 1 Polymorphisms With Multibacillary Leprosy.

Mannose-binding lectin (MBL) is a serum protein of innate immunity, with a central role in the activation of the complement system through the lectin pathway. This protein is encoded by gene, and single-nucleotide polymorphisms located at exon 1, such as rs5030737 C>T ( variant), rs1800450 G>A ( variant), and rs1800451 G>A ( variant), may change the MBL structure and the serum concentration. polymorphisms have been associated with several infectious diseases, including leprosy.