Variants in autoinflammatory diseases-related genes in a family with cold-induced autoinflammatory syndrome.

Objectives: To characterise what immunogenetic alterations are present in a Spanish family having several members with a familial cold-induced autoinflammatory syndrome (FCAS), a kind of autoinflammatory disease (AID).

Methods: We present the case of two sisters (cases 1 and 2) with a similar clinical picture since their childhood. The symptoms start after exposure to cold and consist of recurrent fever, papules or urticaria, and oedema in hands and fingers.

Dose adjustment of clopidogrel in hyper-responder patients with unruptured intracranial aneurysms treated with stents.

Background: The management of clopidogrel in hyper-responders has not been well described. We report the treatment and dose adjustment individualization with clopidogrel oral solution (COS) in hyper-responder patients with an unruptured intracranial aneurysm treated with a stent.

Methods: A prospective study (2015-2018) in patients receiving clopidogrel prior to endovascular treatment was performed.

Vitamin D Modifies the Incidence of Graft-versus-Host Disease after Allogeneic Stem Cell Transplantation Depending on the Vitamin D Receptor (VDR) Polymorphisms.

Purpose: The biologically active metabolite of vitamin D3, 1,25-dihydroxyvitamin D3 (vit D), has immunoregulatory properties via binding vitamin D receptor (VDR). In a prospective trial, we previously reported a reduction in the incidence of chronic GvHD (cGvHD) among patients who received vit D after allogeneic stem cell transplantation (allo-HSCT; Clinical Trials.gov: NCT02600988).

Timing of CMV-specific effector memory T cells predicts viral replication and survival after allogeneic hematopoietic stem cell transplantation.

The aim of this study was to characterize timing, kinetic, and magnitude of CMV-specific immune response after hematopoietic stem cell transplantation (HSCT) and its ability to predict CMV replication and clinical outcomes. Using cell surface and intracellular cytokine staining by flow cytometry, CMV-specific T-cell response was measured in blood, while CMV viral load and chimerism were determined by real-time PCR. Patients that reconstituted CMV-specific T-cell response within 6 weeks after Allo-SCT showed a more robust immune response (CD8(+) : 0.

Epistatic interaction of ERAP1 and HLA-B in Behçet disease: a replication study in the Spanish population.

Behçet's disease (BD) is a multifactorial disorder associated with the HLA region. Recently, the ERAP1 gene has been proposed as a susceptibility locus with a recessive model and with epistatic interaction with HLA-B51. ERAP1 trims peptides in the endoplasmic reticulum to optimize their length for MHC-I binding.

PNPLA3 rs738409 causes steatosis according to viral & IL28B genotypes in hepatitis C.

Background: Hepatitis C virus (HCV) is associated with a higher prevalence of steatosis compared to the general population.

Aim: Our aim was to assess the impact of PNPLA3 rs738409 G-allele on steatosis in HCV patients.

Material And Methods: We included 474 HCV patients treated with peginterferon plus ribavirin.

HLA and non-HLA genes in Behçet's disease: a multicentric study in the Spanish population.

Introduction: According to genome wide association (GWA) studies as well as candidate gene approaches, Behçet's disease (BD) is associated with human leukocyte antigen (HLA)-A and HLA-B gene regions. The HLA-B51 has been consistently associated with the disease, but the role of other HLA class I molecules remains controversial. Recently, variants in non-HLA genes have also been associated with BD.

Hepatitis C virus-specific cellular immune responses in sustained virological responders with viral persistence in peripheral blood mononuclear cells.

Background & Aims: Hepatitis C virus (HCV)-RNA detection in peripheral blood mononuclear cells (PBMCs) after recovery from HCV infection, is a type of occult HCV infection although is unclear how the viral persistence in PBMCs affects HCV-specific T-cell responses. The aim of this study was to investigate if cellular immune responses are modified by HCV persistence in PBMCs.

Methods: HCV-specific CD4(+) and CD8(+) T-cell responses against six HCV peptides, situated within the non-structural (NS) proteins NS3, NS4b and NS5b, were measured by flow cytometry-through intracellular detection of gamma interferon (IFN-γ) or interleukin 4 (IL-4) and CD69 expression- in 27 sustained virological responders (SVR): 13 with and 14 without occult HCV infection in PBMCs, detected by strand-specific real-time PCR.

Expression of CD81, SR-BI and LDLR in lymphocytes and monocytes from patients with classic and occult hepatitis C virus infection.

CD81, the scavenger receptor-BI (SR-BI) and the low-density lipoprotein receptor (LDLR) are involved in peripheral blood mononuclear cells (PBMCs) hepatitis C virus (HCV) entry. To investigate if these molecules are altered by HCV, 20 controls and 66 patients: 37 untreated and 29 sustained virological responders, were studied. CD81 and LDLR expression, measured the percentage of cells expressing the HCV-receptors and their mean fluorescence intensity (MFI), was analyzed on lymphocytes and monocytes, as well as SR-BI on monocytes by flow cytometry.

Interleukin-28B genetic variants and hepatitis virus infection by different viral genotypes.

Unlabelled: Genetic host factors may modify the course of the hepatitis C virus (HCV) infection. Very recently, a genome-wide scan that reported association of the IL28B locus with response to treatment in HCV infection was published. The aim of the current study was to investigate the relationship of this locus with outcome of HCV infection in a cohort constituted by a total of 731 Spanish individuals.

Identification of HAVCR1 gene haplotypes associated with mRNA expression levels and susceptibility to autoimmune diseases.

Human HAVCR1 gene maps on 5q33.2, a region linked with susceptibility to allergic and autoimmune diseases. The aims of the present study were to define the haplotypes of HAVCR1 gene taking into account both HapMap Project SNP haplotypes and exon 4 variants, to investigate a possible relationship between these haplotypes and mRNA expression levels, and to assess whether HAVCR1 gene is involved in susceptibility to rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE).

Mitochondrial DNA A4336G mutation in Alzheimer's and Parkinson's diseases.

Objectives: To determine whether the mitochondrial DNA (mtDNA) A4336G mutation represents a risk factor for Spanish patients with both Alzheimer's disease (AD) and Parkinson's disease (PD).

Material And Methods: One hundred and sixty-one AD and 106 PD unrelated patients were included in the study. Seventy-eight age-matched and 144 randomly chosen healthy subjects served as controls.