11 research outputs found
Design, construction and evaluation of a specific immunogen for prevention of bovine mastitis produced by Streptococcus uberis
No full textFil: Perrig, Melina Soledad. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas; Argentina.La mastitis bovina es una enfermedad importante del ganado lechero. Es responsable de grandes pérdidas económicas para los agricultores y la industria láctea, una de las principales actividades económicas de la Argentina. Streptococcus uberis es un patógeno ambiental que no puede ser controlado con las medidas establecidas por los organismos internacionales y nacionales. La alta incidencia de este patógeno en Argentina y otros países del mundo y la falta de tratamiento antibiótico eficaz durante los períodos de mayor incidencia, centran el problema en la búsqueda de terapias alternativas que tiendan a disminuir el uso de antibióticos, tales como terapias Inmunoprofilácticas. El principal objetivo de este trabajo fue desarrollar un inmunógeno específico para la prevención de la mastitis bovina causada por S. uberis. Este estudio permitió determinar que dos factores de virulencia: PauA y SUAM, son altamente conservados y prevalentes en aislamientos de S. uberis de Argentina, y constituyen candidatos vacunales capaces de generar una respuesta inmune significativa. Además, los resultados indican una región dentro de la molécula SUAM, que tendría un papel importante en el mecanismo patogénico de esta bacteria. La inmunización bovina con el prototipo de la vacuna indican que ambas proteínas, formuladas con el adyuvante adecuado, pueden generar una respuesta inmune que es prometedora para futuros ensayos de vacunas contra S. uberis.Bovine mastitis is an important disease of dairy cattle. It is responsible for great economic losses for farmers and the dairy industry, one of the main economic activities in Argentina. Streptococcus uberis is an environmental pathogen for which the control measures established by international and national entities have no success. The high incidence of this pathogen both in Argentina and other countries toghether with the lack of effective antibiotic therapy during periods of increased incidence, focus the problem in the search for an alternative therapy tending to reduce the use of antibiotics, such as an imunoprophylactic therapy. The main objective of this work was to develop a specific immunogen for the prevention of bovine mastitis caused by S. uberis. This study allowed us to determine that two virulence factor: PauA and SUAM are highly conserved and prevalent, and are vaccine candidates able to induce a significant immune response. Furthermore, the results suggest a region within the SUAM molecule, having an important role in the pathogenic mechanism of this microorganism. Bovine immunization with the vaccine prototype indicate that both proteins, formulated with the adequate adjuvant, can generate an immune response and they are promising for future trials of vaccines against S. uberis infection.Fundacion Nuevo Banco de Santa FeConsejo Nacional de Investigaciones Científicas y TécnicasAgencia Nacional de Promoción Científica y Tecnológic
Design, construction and evaluation of a specific immunogen for prevention of bovine mastitis produced by Streptococcus uberis
No full textFil: Perrig, Melina Soledad. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas; Argentina.La mastitis bovina es una enfermedad importante del ganado lechero. Es responsable de grandes pérdidas económicas para los agricultores y la industria láctea, una de las principales actividades económicas de la Argentina. Streptococcus uberis es un patógeno ambiental que no puede ser controlado con las medidas establecidas por los organismos internacionales y nacionales. La alta incidencia de este patógeno en Argentina y otros países del mundo y la falta de tratamiento antibiótico eficaz durante los períodos de mayor incidencia, centran el problema en la búsqueda de terapias alternativas que tiendan a disminuir el uso de antibióticos, tales como terapias Inmunoprofilácticas. El principal objetivo de este trabajo fue desarrollar un inmunógeno específico para la prevención de la mastitis bovina causada por S. uberis. Este estudio permitió determinar que dos factores de virulencia: PauA y SUAM, son altamente conservados y prevalentes en aislamientos de S. uberis de Argentina, y constituyen candidatos vacunales capaces de generar una respuesta inmune significativa. Además, los resultados indican una región dentro de la molécula SUAM, que tendría un papel importante en el mecanismo patogénico de esta bacteria. La inmunización bovina con el prototipo de la vacuna indican que ambas proteínas, formuladas con el adyuvante adecuado, pueden generar una respuesta inmune que es prometedora para futuros ensayos de vacunas contra S. uberis.Bovine mastitis is an important disease of dairy cattle. It is responsible for great economic losses for farmers and the dairy industry, one of the main economic activities in Argentina. Streptococcus uberis is an environmental pathogen for which the control measures established by international and national entities have no success. The high incidence of this pathogen both in Argentina and other countries toghether with the lack of effective antibiotic therapy during periods of increased incidence, focus the problem in the search for an alternative therapy tending to reduce the use of antibiotics, such as an imunoprophylactic therapy. The main objective of this work was to develop a specific immunogen for the prevention of bovine mastitis caused by S. uberis. This study allowed us to determine that two virulence factor: PauA and SUAM are highly conserved and prevalent, and are vaccine candidates able to induce a significant immune response. Furthermore, the results suggest a region within the SUAM molecule, having an important role in the pathogenic mechanism of this microorganism. Bovine immunization with the vaccine prototype indicate that both proteins, formulated with the adequate adjuvant, can generate an immune response and they are promising for future trials of vaccines against S. uberis infection.Fundacion Nuevo Banco de Santa FeConsejo Nacional de Investigaciones Científicas y TécnicasAgencia Nacional de Promoción Científica y Tecnológic
Assessment of the potential utility of different regions of Streptococcus uberis adhesion molecule (SUAM) for mastitis subunit vaccine development
No full textStreptococcus uberis is one of the most prevalent pathogens causing clinical and subclinical mastitis worldwide. Among bacterial factors involved in intramammary infections caused by this organism, S. uberis adhesion molecule (SUAM) is one of the main virulence factors identified. This molecule is involved in S. uberis internalization to mammary epithelial cells through lactoferrin (Lf) binding. The objective of this study was to evaluate SUAM properties as a potential subunit vaccine component for prevention of S. uberis mastitis. B epitope prediction analysis of SUAM sequence was used to identify potentially immunogenic regions. Since these regions were detected all along the gene, this criterion did not allow selecting a specific region as a potential immunogen. Hence, four fractions of SUAM (-1fr, 2fr, 3fr and 4fr), comprising most of the protein, were cloned and expressed. Every fraction elicited a humoral immune response in mice as predicted by bioinformatics analysis. SUAM-1fr generated antibodies with the highest recognition ability towards SUAM native protein. Moreover, antibodies against SUAM-1fr produced the highest proportion of internalization inhibition of S. uberis to mammary epithelial cells. In conclusion, SUAM immunogenic and functionally relevant regions were identified and allowed to propose SUAM-1fr as a potential candidate for a subunit vaccine for S. uberis mastitis prevention.Fil: Perrig, Melina Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe; Argentina. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas. Laboratorio de Tecnología Inmunológica; ArgentinaFil: Veaute, Carolina Melania Isabel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe; Argentina. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas. Laboratorio de Tecnología Inmunológica; ArgentinaFil: Renna, Maria Sol. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe. Instituto de Ciencias Veterinarias del Litoral. Universidad Nacional del Litoral. Facultad de Ciencias Veterinarias. Instituto de Ciencias Veterinarias del Litoral; ArgentinaFil: Pujato, Nazarena. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe; Argentina. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas. Laboratorio de Tecnología Inmunológica; ArgentinaFil: Calvinho, Luis Fernando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe; Argentina. Instituto Nacional de Tecnología Agropecuaria. Centro Regional Santa Fe. Estación Experimental Agropecuaria Rafaela; Argentina. Universidad Nacional del Litoral. Facultad de Ciencias Veterinarias; ArgentinaFil: Marcipar, Iván Sergio. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas. Laboratorio de Tecnología Inmunológica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe; ArgentinaFil: Barbagelata, María Sol. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe; Argentina. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas. Laboratorio de Tecnología Inmunológica; Argentin
IgG Autoantibodies Induced by T. cruzi During Pregnancy: Correlation with Gravidity Complications and Early Outcome Assessment of the Newborns
No full textObjective: The aim of the present research was to evaluate the correlation of vertically transmitted IgG antibodies induced by T. cruzi and newborn early outcome assessment, mainly birth weight and gestational age. Methods: We performed a cross-sectional study with 183 pregnant women (64 with asymptomatic Chagas disease) and their newborns. Both were subjected to complete clinical examination. Peripheral parasitemia was assessed in mother and neonates by parasite detection through microscopic examination of the buffycoat from mother’s peripheral and cord blood. Antibodies induced by T. cruzi, such as anti-FRA, anti-B13, anti-p2β and anti-T. cruzi were assessed by immunoassay. Birth weight, general condition evaluation by APGAR Score and gestational age by Capurro Score, were determined in newborns. Results: The rate of stillbirth background and pregnancy-induced hypertension were higher in patients with Chagas disease (p = 0.01 and p = 0.02, respectively). Parasitemia was detectable in 17 mothers and 4 newborns. The newborns of mothers with detectable parasitemia presented decreased gestational age (p = 0.006) and body weight (p = 0.04). Mostly all the mothers with Chagas disease and all their newborns have positive values of antibodies induced by T. cruzi; however, only anti-p2β showed to be related to the presence of complication during pregnancy (OR 2.35, p = 0.036), and to low birth weight (OR 1.55, p = 0.02). Conclusions: Low birth weight and decreased postnatal estimation of maturity were related to detectable parasitemia in the mother. Also, vertical transmission of T. cruzi-induced autoantibodies might have clinical implication in newborns given the negative association between anti-p2β values and weight.Fil: Vicco, Miguel Hernán. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe; Argentina. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas. Laboratorio de Tecnología Inmunológica; ArgentinaFil: Rodeles Antonelli, Luz María. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe; Argentina. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas. Laboratorio de Tecnología Inmunológica; ArgentinaFil: Capovilla, Gabriela Soledad. Universidad Nacional del Litoral; ArgentinaFil: Perrig, Melina Soledad. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas. Laboratorio de Tecnología Inmunológica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe; ArgentinaFil: Choque, Ana Gabriela Herrera. Universidad Mayor de San Andrés; BoliviaFil: Marcipar, Iván Sergio. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe; Argentina. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas. Laboratorio de Tecnología Inmunológica; ArgentinaFil: Bottasso, Oscar Adelmo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario. Instituto de Inmunología Clinica y Experimental de Rosario. Universidad Nacional de Rosario. Facultad de Ciencias Médicas. Instituto de Inmunología Clinica y Experimental de Rosario; ArgentinaFil: Rodriguez, Celeste. Universidad Mayor de San Andrés; BoliviaFil: Cuña, Washington. Universidad Mayor de San Andrés; Bolivi
Survey of potential factors involved in the low frequency of CP5 and CP8 expression in Staphylococcus aureus isolates from mastitis of dairy cattle from Argentina, Chile, and Uruguay
No full textStaphylococcus aureus produces capsular polysaccharides (CPs) both in vivo and under defined culture conditions being serotypes 5 and 8 the most prevalent. S. aureus isolates that fail to produce CP5 or CP8 are defined as non-typeable (NT). Loss of capsule expression, however, may lead to S. aureus persistence in a chronically infected host. The prevalence of NT strains of S. aureus isolated from bovine mastitis varies according to the geographic origin of the strain. The aims of this work were to detect phenotypically and genotypically the capsular profile of 144 S. aureus isolated from bovine mastitis in Argentina, Chile, and Uruguay and explore the factors that are considered to be associated with capsule expression as presence of IS257, IScap, and agr typing of non-related collection. The detection of the IS257, IScap, cap genes, and agr typing was performed using PCR. The detection and quantification of capsular polysaccharide production were performed by ELISA assays. We found that 96% of the S. aureus isolates investigated carried cap5(8) genes but over 75% of strains do not express capsule in the three countries studied. However, only 6 isolates from Argentina carried the IScap element that totally suppressed the expression of the capsule, suggesting that other factors could influence on CP expression. Moreover, the agrI/NT association was statistically significant suggesting that this profile is a phenomenon observed not only in other parts of the world but also in our region.Fil: Ambroggio, Maria Belen. Universidad Nacional del Litoral; ArgentinaFil: Perrig, Melina Soledad. Universidad Nacional del Litoral; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe; ArgentinaFil: Camussone, Cecilia María. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe; Argentina. Instituto Nacional de Tecnología Agropecuaria. Centro Regional Santa Fe. Estación Experimental Agropecuaria Rafaela; ArgentinaFil: Pujato, Nazarena. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe; Argentina. Universidad Nacional del Litoral; ArgentinaFil: Bertón, Alicia. Lactodiagnóstico Sur Uruguay; UruguayFil: Gianneechini, Edgardo. Laboratory Veterinary Direction “Miguel C. Rubino”; UruguayFil: Alvarez, Silvia. Udder Health; ChileFil: Marcipar, Iván Sergio. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe; Argentina. Universidad Nacional del Litoral; ArgentinaFil: Calvinho, Luis Fernando. Instituto Nacional de Tecnología Agropecuaria. Centro Regional Santa Fe. Estación Experimental Agropecuaria Rafaela; Argentina. Universidad Nacional del Litoral. Facultad de Ciencias Veterinarias; ArgentinaFil: Barbagelata, María Sol. Universidad Nacional del Litoral; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe; Argentin
Evaluation of the humoral immune response to a multicomponent recombinant vaccine against S. aureus in healthy pregnant heifers
No full textStaphylococcus aureus is a worldwide pathogen that causes mastitis in dairy herds. Shortcomings in control programs have encouraged the development of vaccines against this pathogen. This study evaluated the vaccine candidate VacR, which included recombinant S. aureus protein clumping factor A (rClf), fibronectin binding protein A (rFnBP) and hemolysin beta (rBt), formulated with a novel immune-stimulating complex. Comparisons were made between healthy pregnant heifers that received either VacR (n = 8; VacR group) or phosphate buffered saline (PBS) plus adjuvant (control group) SC in the supramammary lymph node area on days 45 and 15 before the expected calving date. Blood and foremilk samples were collected from 7 to 60 days post-calving.
After calving, heifers in the VacR group produced higher total IgG (IgGtotal) titers against each component, in both serum (rBt, 3.4 × 105; rClf, 3.1 × 105; rFnBP, 2.3 × 105) and milk (rBt, 2.6 × 104; rClf, 1.3 × 104; rFnBP, 1.1 × 104), than control heifers (P < 0.0001). There were increased concentrations of IgG1 and IgG2 in VacR group (P < 0.05), in both serum and milk. Humoral responses remained high throughout the period most susceptible to intramammary infections (P < 0.01). Antibodies produced against S. aureus rClf and rFnBP reduced bacterial adherence to fibronectin and fibrinogen by 73% and 67%, respectively (P < 0.001). Milk antibodies against these adhesins inhibited S. aureus invasion of a mammary epithelial cell line (MAC-T), resulting in 15.7% of bacteria internalized (P < 0.0001). There was an approximately 6-fold reduction in the hemolysis titer for the native hemolysin in the VacR group compared to the control group (P < 0.0001) and a significantly increase in the proportion of positive neutrophils (VacR, 29.7%; PBS, 13.1%) and the mean fluorescent index (VacR, 217.4; PBS, 152.6; P < 0.01) in the VacR group. The results suggest that VacR is a valuable vaccine candidate against S. aureus infections, and merits further field trials and experimental challenges.EEA RafaelaFil: Pujato, Nazarena. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas; ArgentinaFil: Camussone, Cecilia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Rafaela; ArgentinaFil: Renna, Maria Sol. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe. Instituto de Ciencias Veterinarias del Litoral. Universidad Nacional del Litoral. Facultad de Ciencias Veterinarias; ArgentinaFil: Perrig, Melina Soledad. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe; Argentina.Fil: Morein, Bror. Uppsala University. Department of Clinical Virology; SueciaFil: Calvinho, Luis Fernando. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Rafaela; Argentina. Universidad Nacional del Litoral. Facultad de Ciencias Veterinarias; ArgentinaFil: Marcipar, Iván Sergio. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas. Laboratorio de Tecnología Inmunológica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe; Argentin
Effect of repetitiveness on the immunogenicity and antigenicity of Trypanosoma cruzi FRA protein
No full textRepetitive proteins (RP) of Trypanosoma cruzi are highly present in the parasite and are strongly recognized by sera from Chagas' disease patients. Flagelar Repetitive Antigen (FRA), which is expressed in all steps of the parasite life cycle, is the RP that displays the greatest number of aminoacids per repeat and has been indicated as one of the most suitable candidate for diagnostic test because of its high performance in immunoassays. Here we analyzed the influence of the number of repeats on the immunogenic and antigenic properties of the antigen. Recombinant proteins containing one, two, and four tandem repeats of FRA (FRA1, FRA2, and FRA4, respectively) were obtained and the immune response induced by an equal amount of repeats was evaluated in a mouse model. The reactivity of specific antibodies present in sera from patients naturally infected with T. cruzi was also assessed against FRA1, FRA2, and FRA4 proteins, and the relative avidity was analyzed. We determined that the number of repeats did not increase the humoral response against the antigen and this result was reproduced when the repeated motifs were alone or fused to a non-repetitive protein. By contrast, the binding affinity of specific human antibodies increases with the number of repeated motifs in FRA antigen. We then concluded that the high ability of FRA to be recognized by specific antibodies from infected individuals is mainly due to a favorable polyvalent interaction between the antigen and the antibodies. In accordance with experimental results, a 3D model was proposed and B epitope in FRA1, FRA2, and FRA4 were predicted
Genotyping and study of the pauA and sua genes of Streptococcus uberis isolates from bovine mastitis
No full textAbstractThis study aimed to determine the clonal relationship among 137 Streptococcus uberis isolates from bovine milk with subclinical or clinical mastitis in Argentina and to assess the prevalence and conservation of pauA and sua genes. This information is critical for the rational design of a vaccine for the prevention of bovine mastitis caused by S. uberis. The isolates were typed by random amplified polymorphic DNA (RAPD) analysis and by pulsed-field gel electrophoresis (PFGE). The 137 isolates exhibited 61 different PFGE types and 25 distinct RAPD profiles. Simpson's diversity index was calculated both for PFGE (0.983) and for RAPD (0.941), showing a high discriminatory power in both techniques. The analysis of the relationship between pairs of isolates showed 92.6% concordance between both techniques indicating that any given pair of isolates distinguished by one method tended to be distinguished by the other. The prevalence of the sua and pauA genes was 97.8% (134/137) and 94.9% (130/137), respectively. Nucleotide and amino acid sequences of the sua and pauA genes from 20 S. uberis selected isolates, based on their PFGE and RAPD types and geographical origin, showed an identity between 95% and 100% with respect to all reference sequences registered in GenBank. These results demonstrate that, in spite of S. uberis clonal diversity, the sua and pauA genes are prevalent and highly conserved, showing their importance to be included in future vaccine studies to prevent S. uberis bovine mastitis
Terceras Jornadas Villa Nueva Investiga. Escenarios de pandemia y pospandemia: desafíos a nivel local y regional : Libro de resúmenes 2021
No full textLas Terceras Jornadas Villa Nueva Investiga. Escenarios de pandemia y pospandemia: desafíos a nivel local y regional se desarrollaron los días 16 y sábado 23 de octubre de 2021. Hubo 22 trabajos que conformaron los distintos ejes: Patrimonio, Procesos Sociales, Vida Cotidiana y Presentación Libre “Esbozos y no tanto”. Con respecto a las asistentes que participaron en los dos días, se registraron cincuenta personas entre estudiantes, profesionales y ciudadanos/as en general de Villa Nueva, Villa María, La Laguna, San Francisco, Córdoba, Bell Ville, Arroyo Cabral, entre otras localidades. Esta actividad fue organizada por la Dirección de Patrimonio y Archivo (a cargo de Luciano Pereyra) y el Programa de Cultura Científica (responsabilidad de Guillermo Bovo) dependientes y en conjunto con la Secretaria de Educación y Cultura de la Municipalidad de Villa Nueva, conducida por Marcela Unzueta. Cabe destacar que las Jornadas Villa Nueva Investiga se transformaron en una política de gobierno por decisión del intendente de Villa Nueva, Natalio Graglia, con el objetivo que la actividad académica y de investigación crezca y se fortalezca. En tanto, se agradece al Instituto Académico Pedagógico de Ciencias de la Universidad Nacional de Villa María por el acompañamiento (académico) y promoción, en particular al decano Gabriel Suarez y la secretaria de Investigación y Extensión, Carla Avendaño Manelli. A continuación, se expondrán -organizados en cuatro ejes- los resúmenes de los diversos ponentes de las Terceras Jornadas Villa Nueva Investiga.--“Ayer he perdido una batalla”: crónica de Quebracho, donde el cementerio fue más grande que el pueblo / Manuel Montali; Felipe Álvarez, el caudillo de Fraile Muerto. A 200 años de su fusilamiento / César Luis Cabanillas; Vagos y mal entretenidos / Leonardo Diego Muñoz; Expediente Nº 12, 1872 / Luciano Pereyra; El surgimiento de las radios de Frecuencia Modulada en Villa Nueva (Córdoba). Vida Cotidiana / Adrián Romero; La Construcción de una agenda cultural local en Pandemia: El Caso de Amigxs del Rock FM Radio Universidad de Villa María / Héctor Daniel Bacci, Claudia Soledad Gatica y Fabián Gustavo Lynch; Covid-19 y la puesta en valor de los medios de comunicación regionales / Daniel Rodríguez; Qué es ser villanovense: aproximaciones al concepto de identidad desde lo cotidiano / Gabriela Sarasa, Federico Collura y Facundo Güelfi; Nuestra Historia: La Laguna / María Laura Manavella; Desarrollo Estratégico Participativo en la localidad de Capilla del Monte-Córdoba / Vanesa Crissi Aloranti; Yanina Veppo; Giuliana Beltramone; Diego Cmet; Laura Lagoría; José Guillermo Ruiz; Micaela Redlich; Nancy Romero; Melina Sager y Lara Pérez Bacci; Pensar con cuidado: algunas reflexiones sobre producir conocimiento con niñxs y jóvenes / Noelia Casella y Rocío Fatyass; Chalet Arnaldo León Soriano Patrimonio / María Isabel Felipe; Hospital Regional Dr. José Antonio Ceballos / Myriam López; Reserva “Natural Parque Hipólito Yrigoyen y ribera del Río Ctalamochita” Patrimonio Ecológico Inalterable Villa Nueva-Córdoba / Diego Villaroel; Vivienda de la familia Pereira. Patrimonio arquitectónico de la ciudad / Agostina Ghione; Corren los días de la cuarentena / Mildred Martínez; La lenga dël cheur -La lengua del corazón- / Ana María Filippa y Ana María Bovo; Pamela Storey, "la inglesa" en Villa Nueva / Marta Tymoschuk; El podcast como herramienta de comunicación desde la Ciencia digna: articulaciones en curso entre experiencias de investigación y extensión / autorxs varios; Registro y construcción de un Archivo Digital sobre la Pandemia por Covid-19 en las ciudades de Villa María y Villa Nueva, 2020-2021 / Sara Perrig, Aimé Aminahuel y Carla AchilliFil: Pereyra, Luciano. Universidad Nacional Villa María; Argentina..Fil: Bovo, Guillermo Daniel, . Universidad Nacional de Villa María; Argentina
Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation
No full textCernunnos/XLF deficiency is a rare primary immunodeficiency classified within the DNA repair defects. Patients present with severe growth retardation, microcephaly, lymphopenia and increased cellular sensitivity to ionizing radiation. Here, we describe two unrelated cases with the same non-sense mutation in the NHEJ1 gene showing significant differences in clinical presentation and immunological profile but a similar DNA repair defect.FIS (Fondo de Investigación Sanitaria)MINECO (Ministerio de Economía y competitividad)CAM (Comunidad Autónoma de Madrid)Depto. de Inmunología, Oftalmología y ORLFac. de MedicinaTRUEpu
