El fons Marca

El fons Marca és un conjunt de publicacions dedicades bàsicament a les arts i les lletres catalanes, trobat i reunit pel llibreter barceloní Joan Marca i Marc

Col·leccions singulars a les biblioteques de la Universitat Autònoma de Barcelona

Les biblioteques de la Universitat Autònoma de Barcelona són, com la mateixa institució, entitats amb una història curta; però, malgrat que van començar la seva activitat fa menys de cinquanta anys, els seus fons han assolit una importància considerable i superen en quantitat els de moltes universitats centenàries del nostre context. Les col·leccions de fons antics de les biblioteques de la UAB són, per aquesta mateixa raó, limitades, si bé se n'han anat creant algunes d'especialitzades d'importància i valor singulars. Aquest llibre pretén donar-les a conèixer al món universitari, però també al públic en general. Moltes són col·leccions úniques, fruit del treball persistent del personal bibliotecari, del professorat i de la generositat de moltes persones particulars, que han donat o llegat a la nostra universitat els seus arxius, les seves biblioteques personals o les seves col·leccions especialitzades. Aquestes col·leccions comprenen molts àmbits de les ciències i de les humanitats i, molt sovint, es tracta de col·leccions úniques al nostre país. Hi trobareu també un ampli ventall de tipologies documentals en llengües diverses, des dels mapes fins als audiovisuals, des de les revistes i diaris fins als cartells, des dels fons antics fins als més actuals, arxius personals i fons institucionals. Les biblioteques de la Universitat, a més d'inventariar i catalogar aquests fons documentals, també porten a terme una tasca constant de preservació i difusió, que sovint inclou la digitalització dels documents, que després es posen a l'abast del públic general mitjançant el dipòsit digital institucional (ddd.uab.cat)

Association of Functional Polymorphisms of KIR3DL1/DS1 With Behçet's Disease

Behçet's disease (BD) is an immune-mediated vasculitis related to imbalances between the innate and adaptive immune response. Infectious agents or environmental factors may trigger the disease in genetically predisposed individuals. HLA-B51 is the genetic factor stronger associated with the disease, although the bases of this association remain elusive. NK cells have also been implicated in the etiopathogenesis of BD. A family of NK receptors, Killer-cell Immunoglobulin-like Receptor (KIR), with a very complex organization, is very important in the education and control of the NK cells by the union to their ligands, most of them, HLA class I molecules. This study aimed to investigate the contribution of certain KIR functional polymorphisms to the susceptibility to BD. A total of 466 BD patients and 444 healthy individuals were genotyped in HLA class I (A, B, and C). The set of KIR genes and the functional variants of KIR3DL1/DS1 and KIR2DS4 were also determined. Frequency of KIR3DL1004 was lower in patients than in controls (0.15 vs. 0.20, P = 0.005, Pc = 0.015; OR = 0.70; 95% CI 0.54-0.90) in both B51 positive and negative individuals. KIR3DL1004, which encodes a misfolded protein, is included in a common telomeric haplotype with only one functional KIR gene, KIR3DL2. Both, KIR3DL1 and KIR3DL2 sense pathogen-associated molecular patterns but they have different capacities to eliminate them. The education of the NK cells depending on the HLA, the balance of KIR3DL1/KIR3DL2 licensed NK cells and the different capacities of these receptors to eliminate pathogens could be involved in the etiopathogenesis of BD

El fons Marca

El fons Marca és un conjunt de publicacions dedicades bàsicament a les arts i les lletres catalanes, trobat i reunit pel llibreter barceloní Joan Marca i Marc

Genetic Analysis with the Immunochip Platform in Behçet Disease. Identification of Residues Associated in the HLA Class I Region and New Susceptibility Loci.

Behcet's disease (BD) is an immuno-mediated vasculitis in which knowledge of its etiology and genetic basis is limited. To improve the current knowledge, a genetic analysis performed with the Immunochip platform was carried out in a population from Spain. A discovery cohort comprising 278 BD cases and 1,517 unaffected controls were genotyped using the Immunochip platform. The validation step was performed on an independent replication cohort composed of 130 BD cases and 600 additional controls. The strongest association signals were observed in the HLA class I region, being HLA-B*51 the highest peak (overall P = 6.82E-32, OR = 3.82). A step-wise conditional logistic regression with classical alleles identified HLA-B*57 and HLA-A*03 as additional independent markers. The amino acid model that best explained the association, includes the position 97 of the HLA-B molecule and the position 66 of the HLA-A. Among the non-HLA loci, the most significant in the discovery analysis were: IL23R (rs10889664: P = 3.81E-12, OR = 2.00), the JRKL/CNTN5 region (rs2848479: P = 5.00E-08, OR = 1.68) and IL12A (rs1874886: P = 6.67E-08, OR = 1.72), which were confirmed in the validation phase (JRKL/CNTN5 rs2848479: P = 3.29E-10, OR = 1.66; IL12A rs1874886: P = 1.62E-08, OR = 1.61). Our results confirm HLA-B*51 as a primary-association marker in predisposition to BD and suggest additional independent signals within the class I region, specifically in the genes HLA-A and HLA-B. Regarding the non-HLA genes, in addition to IL-23R, previously reported in our population; IL12A, described in other populations, was found to be a BD susceptibility factor also in Spaniards; finally, a new associated locus was found in the JRKL/CNTN5 region