Identification of Two New HLA-DQA1 Alleles: HLA-DQA1*01:173 and -DQA1*03:82.

HLA-DQA1*01:173 and -DQA1*03:82, two novel HLA-DQA1 alleles detected by next generation sequencing.

Identification of three new HLA-A intronic variants by next-generation sequencing.

Three novel HLA-A intronic variants, HLA-A*03:01:01:121, HLA-A*29:02:01:41 and HLA-A*30:02:01:24, detected by next-generation sequencing.

Characterisation of two new HLA-DPA1 alleles: HLA-DPA1*02:139 and -DPA1*02:140N.

HLA-DPA1*02:139 and -DPA1*02:140N, two novel HLA-DPA1 alleles detected by next-generation sequencing.

Identification of six new HLA-C variants with nucleotide changes in non-coding regions.

Six novel HLA-C variants with nucleotide changes in non-coding regions: HLA-C*04:32:01:02, -C*07:01:01:142, -C*08:04:01:05, -C*12:03:01:68, -C*12:03:01:69 and -C*16:01:01:41.

Identification of the novel HLA-C*08:291 allele by next-generation sequencing.

HLA-C*08:291, a novel HLA class I allele detected by next-generation sequencing.

Identification of the novel HLA-DQA1*05:03:03 allele by next-generation sequencing.

HLA-DQA1*05:03:03, a novel HLA class II allele detected by next-generation sequencing.

A novel HLA-DPA1 allele, HLA-DPA1*02:134, identified by next-generation sequencing.

HLA-DPA1*02:134, a novel HLA class II allele detected by next-generation sequencing.

Genotypic Frequencies of Mutations Associated with Alpha-1 Antitrypsin Deficiency in Unrelated Bone Marrow Donors from the Murcia Region Donor Registry in the Southeast of Spain.

Alpha-1 antitrypsin (AAT1) deficiency (AAT1D) is an inherited disease with an increased risk of chronic obstructive pulmonary disease (COPD), liver disease, and skin and blood vessel problems. AAT1D is caused by mutations in the SERPINE1 gene (Serine Protease Inhibitor, group A, member 1). Numerous variants of this gene, the Pi system, have been identified.

Early Cytomegalovirus Reactivation in Renal Recipients Is Associated with High Levels of B Cell Maturation Antigen Transcript Expression Prior to Transplantation.

Cytomegalovirus (CMV) infection is the most frequent infection episode in kidney transplant (KT) recipients. Reactivation usually occurs in the first three months after transplantation and is associated with higher cellular and/or antibody-mediated rejection rates and poorer graft performance. CMV induces the expression of BAFF (B-cell-activating factor, a cytokine involved in the homeostasis of B cells), which communicates signals for survival and growth to B cells and virus-specific plasma cells via the R-BAFF (BAFF receptor), TACI (the calcium modulator, the cyclophilin ligand interactor), and BCMA (B cell maturation antigen) receptors.

Higher Expression of Activated CD8 T Lymphocytes (CD8CD25, CD8CD69 and CD8CD95) Mediate Early Post-Transplant Acute Tubular Injury in Kidney Recipients.

Background: Acute kidney injury (AKI) is a leading cause of early post-transplant kidney damage. Furthermore, acute tubular necrosis (ATN) is appointed as the most prevalent form of AKI, a frequent multifactorial process associated with high morbidity and mortality, yet giving rise to delayed graft function (DGF) and, ultimately, allograft dysfunction. Common factors such as prolonged cold ischemia time, advanced donor age, cadaveric versus living donor, donor history of hypertension, as well as donation after cardiac death have all been deemed risk factors for ATN.

All That Glitters in cfDNA Analysis Is Not Gold or Its Utility Is Completely Established Due to Graft Damage: A Critical Review in the Field of Transplantation.

In kidney transplantation, a biopsy is currently the gold standard for monitoring the transplanted organ. However, this is far from an ideal screening method given its invasive nature and the discomfort it can cause the patient. Large-scale studies in renal transplantation show that approximately 1% of biopsies generate major complications, with a risk of macroscopic hematuria greater than 3.

Identification of a novel HLA-DPA1 allele, HLA-DPA1*02:102Q.

HLA-DPA1*02:102Q, a novel HLA class II allele detected by next-generation sequencing.

Monitoring of Serological, Cellular and Genomic Biomarkers in Transplantation, Computational Prediction Models and Role of Cell-Free DNA in Transplant Outcome.

The process and evolution of an organ transplant procedure has evolved in terms of the prevention of immunological rejection with the improvement in the determination of immune response genes. These techniques include considering more important genes, more polymorphism detection, more refinement of the response motifs, as well as the analysis of epitopes and eplets, its capacity to fix complement, the PIRCHE algorithm and post-transplant monitoring with promising new biomarkers that surpass the classic serum markers such as creatine and other similar parameters of renal function. Among these new biomarkers, we analyze new serological, urine, cellular, genomic and transcriptomic biomarkers and computational prediction, with particular attention to the analysis of donor free circulating DNA as an optimal marker of kidney damage.

Identification of five new HLA-DQB1 intronic variants by next-generation sequencing.

Five novel HLA-DQB1 intronic variants detected by next-generation sequencing: HLA-DQB1* 03:01:01:53, -DQB1*03:01:01:55, -DQB1*03:02:01:17, -DQB1*03:02:01:18 and - DQB1*06:03:01:20.

Clinical Significance of the Pre-Transplant CXCR3 and CCR6 Expression on T Cells In Kidney Graft Recipients.

Background: T cells play a fundamental role in the processes that mediate graft rejection, tolerance, and defense against infections. The CXCR3 and CCR6 receptors, highly expressed in Th1 (type 1 T helper cells)/Tc1 (T cytotoxic cells, type 1), Th1-Tc1, and Th17-Tc17 lymphocytes, respectively, participate in cell migration toward inflamed tissues. The altered expression level of CXCR3 and CCR6 has been associated with different clinical events after renal transplantation, such as acute rejection (AR) and chronic graft dysfunction, but data are still limited.

Characterization of two new HLA class I alleles: HLA-B*35:572 and HLA-C*04:491.

HLA-B*35:572 and HLA-C*04:491, two novel HLA class I alleles detected by next-generation sequencing.

Characterization of two new HLA-DPB1 alleles: HLA-DPB1*1443:01 and -DPB1*11:01:07.

HLA-DPB1*1443:01 and -DPB1*11:01:07, two novel HLA-DPB1 alleles detected by next generation sequencing.

Killer Cell Immunoglobulin-like Receptors (KIR) and Human Leucocyte Antigen C (HLA-C) Increase the Risk of Long-Term Chronic Liver Graft Rejection.

Chronic liver rejection (CR) represents a complex clinical situation because many patients do not respond to increased immunosuppression. Killer cell immunoglobulin-like receptors/Class I Human Leukocyte Antigens (KIR/HLA-I) interactions allow for predicting Natural Killer (NK) cell alloreactivity and influence the acute rejection of liver allograft. However, its meaning in CR liver graft remains controversial.

Monitoring of Soluble Forms of BAFF System (BAFF, APRIL, sR-BAFF, sTACI and sBCMA) in Kidney Transplantation.

BAFF system plays an essential role in B cells homeostasis and tolerance, although it has widely not been tested in transplantation with doubtful results. The main purpose was to study the BAFF soluble forms and their correlation with acute rejection (AR) and donor-specific antibodies production. Serum levels of BAFF, APRIL, and soluble forms of their receptors were analyzed in renal recipients with and without acute rejection (AR/NAR) appearance.

Evaluating the Link between BAFF System Gene Expression and Acute Rejection Development in Kidney Transplantation.

B-cell activating factor (BAFF) system signaling is critical for B-cell homeostasis, effector functions, and tolerance maintenance in transplants, but it has not been studied in kidney transplant recipients (KTRs). The aim was to analyze the changes in BAFF system expression in KTRs with/without acute rejection (AR/NAR). The BAFF system expression was analyzed by qPCR in 40 KTRs.

Geographic distribution and phenotype of European people with cystic fibrosis carrying A1006E mutation.

Background: A1006E is a Cystic Fibrosis (CF) mutation that is still not widely known. We report phenotypic features and geographic distribution of the largest cohort of people with CF (pwCF) carrying A1006E to date.

Methods: Study of European pwCF carrying A1006E mutation, included in the European CF Society Patient Registry (ECFSPR).

Computational Prediction of Biomarkers, Pathways, and New Target Drugs in the Pathogenesis of Immune-Based Diseases Regarding Kidney Transplantation Rejection.

Background: The diagnosis of graft rejection in kidney transplantation (KT) patients is made by evaluating the histological characteristics of biopsy samples. The evolution of omics sciences and bioinformatics techniques has contributed to the advancement in searching and predicting biomarkers, pathways, and new target drugs that allow a more precise and less invasive diagnosis. The aim was to search for differentially expressed genes (DEGs) in patients with/without antibody-mediated rejection (AMR) and find essential cells involved in AMR, new target drugs, protein-protein interactions (PPI), and know their functional and biological analysis.

Evaluation of Antibodies Directed Against Two GPCRs, Anti-AT1R and Anti-ETAR, on Kidney Transplant Outcome.

Background: The role of an alloimmune response against non-self-antigens is established in organ transplantation. HLA incompatibilities are mainly responsible for this recognition between donor and recipient, but they may also be involved in the reactivity against other alloantigens expressed on the allograft resulting from an autoimmune response developed against selfantigens.

Objective: Our study aimed to determine the presence of non-anti-HLA antibodies (anti-AT1R and anti-ETAR) in sera from patients with end-stage renal disease, who underwent kidney transplantation in pre- and post-transplantation samples to study their influence on the development and evolution of acute humoral rejections and DSAs.

Personalized Medicine for Kidney Transplantation: Association of Graft Survival and Acute Transplant Rejection with Genetic Variation in B Cell Activating Factor System Signaling.

Kidney transplantation (KT) clinical outcomes are highly variable across patients and would benefit from predictive biomarkers to achieve personalized/precision medicine. The B cell activating factor (BAFF) system signaling plays an essential role in B lymphocytes' homeostasis, and is implicated in activation and survival of B lymphocytes. Single nucleotide polymorphisms (SNPs) in BAFF system genes are therefore strong candidates to identify the genetic mechanisms underpinning variable clinical outcomes in KT.