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1. Role of the IL33 and IL1RL1 pathway in the pathogenesis of Immunoglobulin A vasculitis

Author

Prieto-Peña, Diana, Remuzgo-Martínez, Sara, Genre, Fernanda, Pulito-Cueto, Verónica, Atienza-Mateo, Belén, Llorca, Javier, Sevilla-Pérez, Belén, Ortego-Centeno, Norberto, Marquez, Ana, Lera-Gómez, Leticia, Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Martín-Penagos, Luis, Rodrigo, Emilio, Miranda-Filloy, José A., Caminal-Montero, Luis, Collado, Paz, Sánchez Pérez, Javier, de Argila, Diego, Rubio, Esteban, León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, Eva, Gualillo, Oreste, Martín, Javier, Castañeda, Santos, Blanco, Ricardo, González-Gay, Miguel A., and López-Mejías, Raquel

Published
2021
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2. Author Correction: BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis

Author

Prieto-Peña, Diana, Genre, Fernanda, Remuzgo-Martínez, Sara, Pulito-Cueto, Verónica, Atienza-Mateo, Belén, Llorca, Javier, Sevilla-Pérez, Belén, Ortego-Centeno, Norberto, Lera-Gómez, Leticia, Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Martín-Penagos, Luis, Rodrigo, Emilio, Miranda-Filloy, José A., Caminal-Montero, Luis, Collado, Paz, Pérez, Javier Sánchez, Argila, Diego de, Rubio, Esteban, Luque, Manuel León, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, Eva, Gualillo, Oreste, Martín, Javier, Castañeda, Santos, Blanco, Ricardo, González-Gay, Miguel A., and López-Mejías, Raquel

Published
2021
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3. BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis

Author

Prieto-Peña, Diana, Genre, Fernanda, Remuzgo-Martínez, Sara, Pulito-Cueto, Verónica, Atienza-Mateo, Belén, Llorca, Javier, Sevilla-Pérez, Belén, Ortego-Centeno, Norberto, Lera-Gómez, Leticia, Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Martín-Penagos, Luis, Rodrigo, Emilio, Miranda-Filloy, José A., Caminal-Montero, Luis, Collado, Paz, Pérez, Javier Sánchez, de Argila, Diego, Rubio, Esteban, Luque, Manuel León, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, Eva, Gualillo, Oreste, Martín, Javier, Castañeda, Santos, Blanco, Ricardo, González-Gay, Miguel A., and López-Mejías, Raquel

Published
2021
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4. Mucosal Immune Defence Gene Polymorphisms as Relevant Players in the Pathogenesis of IgA Vasculitis?

Author

Batista-Liz, Joao Carlos, primary, Calvo-Río, Vanesa, additional, Sebastián Mora-Gil, María, additional, Sevilla-Pérez, Belén, additional, Márquez, Ana, additional, Leonardo, María Teresa, additional, Peñalba, Ana, additional, Carmona, Francisco David, additional, Narvaez, Javier, additional, Martín-Penagos, Luis, additional, Belmar-Vega, Lara, additional, Gómez-Fernández, Cristina, additional, Caminal-Montero, Luis, additional, Collado, Paz, additional, Quiroga-Colina, Patricia, additional, Uriarte-Ecenarro, Miren, additional, Rubio, Esteban, additional, Luque, Manuel León, additional, Blanco-Madrigal, Juan María, additional, Galíndez-Agirregoikoa, Eva, additional, Martín, Javier, additional, Castañeda, Santos, additional, González-Gay, Miguel Angel, additional, Blanco, Ricardo, additional, Pulito-Cueto, Verónica, additional, and López-Mejías, Raquel, additional

Published
2023
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5. Mucosal Immune Defence Gene Polymorphisms as Relevant Players in the Pathogenesis of IgA Vasculitis?

Author

European Commission, Instituto de Salud Carlos III, Batista-Liz, Joao Carlos, Calvo-Río, Vanesa, Sebastián Mora-Gil, María, Sevilla-Pérez, Belén, Márquez, Ana, Leonardo, María Teresa, Peñalba, Ana, Carmona, F.D., Narváez, Javier, Martín-Penagos, Luis, Belmar, Lara, Gómez-Fernández, Cristina, Caminal-Montero, Luis, Collado, Paz, Quiroga, Patricia, Uriarte-Ecenarro, Miren, Rubio, Esteban, Luque, Manuel León, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Martín, Javier, Castañeda, Santos, González-Gay, M. A., Blanco, Ricardo, Pulito-Cueto, Verónica, López-Mejías, Raquel, European Commission, Instituto de Salud Carlos III, Batista-Liz, Joao Carlos, Calvo-Río, Vanesa, Sebastián Mora-Gil, María, Sevilla-Pérez, Belén, Márquez, Ana, Leonardo, María Teresa, Peñalba, Ana, Carmona, F.D., Narváez, Javier, Martín-Penagos, Luis, Belmar, Lara, Gómez-Fernández, Cristina, Caminal-Montero, Luis, Collado, Paz, Quiroga, Patricia, Uriarte-Ecenarro, Miren, Rubio, Esteban, Luque, Manuel León, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Martín, Javier, Castañeda, Santos, González-Gay, M. A., Blanco, Ricardo, Pulito-Cueto, Verónica, and López-Mejías, Raquel

Abstract

ITGAM–ITGAX (rs11150612, rs11574637), VAV3 rs17019602, CARD9 rs4077515, DEFA (rs2738048, rs10086568), and HORMAD2 rs2412971 are mucosal immune defence polymorphisms, that have an impact on IgA production, described as risk loci for IgA nephropathy (IgAN). Since IgAN and Immunoglobulin-A vasculitis (IgAV) share molecular mechanisms, with the aberrant deposit of IgA1 being the main pathophysiologic feature of both entities, we assessed the potential influence of the seven abovementioned polymorphisms on IgAV pathogenesis. These seven variants were genotyped in 381 Caucasian IgAV patients and 997 matched healthy controls. No statistically significant differences were observed in the genotype and allele frequencies of these seven polymorphisms when the whole cohort of IgAV patients and those with nephritis were compared to controls. Similar genotype and allele frequencies of all polymorphisms were disclosed when IgAV patients were stratified according to the age at disease onset or the presence/absence of gastrointestinal or renal manifestations. Likewise, no ITGAM–ITGAX and DEFA haplotype differences were observed when the whole cohort of IgAV patients, along with those with nephritis and controls, as well as IgAV patients, stratified according to the abovementioned clinical characteristics, were compared. Our results suggest that mucosal immune defence polymorphisms do not represent novel genetic risk factors for IgAV pathogenesis.

Published
2023

6. Mucosal immune defence polymorphisms: relevant players in IgA vasculitis?

Author

Pulito-Cueto, Verónica, Remuzgo-Martínez, Sara, Genre Romero, Fernanda, Sevilla-Pérez, Belén, Ortego-Centeno, Norberto, Leonardo, María Teresa, Peñalba, Ana, Narváez, J., Martín-Penagos, Luis, Belmar-Vega, Lara, Gómez-Fernández, Cristina, Mora-Gil, María Sebastián, Caminal-Montero, Luis, Collado, Paz, Argila, Diego de, Rodríguez-Jiménez, Pedro, Vicente-Rabaneda, Esther F., Rubio Romero, Esteban, León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Martin Ibáñez, Javier, Castañeda, Santos, González-Gay, M. A., Blanco, Ricardo, López-Mejías, Raquel, Pulito-Cueto, Verónica, Remuzgo-Martínez, Sara, Genre Romero, Fernanda, Sevilla-Pérez, Belén, Ortego-Centeno, Norberto, Leonardo, María Teresa, Peñalba, Ana, Narváez, J., Martín-Penagos, Luis, Belmar-Vega, Lara, Gómez-Fernández, Cristina, Mora-Gil, María Sebastián, Caminal-Montero, Luis, Collado, Paz, Argila, Diego de, Rodríguez-Jiménez, Pedro, Vicente-Rabaneda, Esther F., Rubio Romero, Esteban, León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Martin Ibáñez, Javier, Castañeda, Santos, González-Gay, M. A., Blanco, Ricardo, and López-Mejías, Raquel

Published
2023

7. IgAV and IgAN: a single entity regarding CD40, BLK and BANK1 polymorphisms.

Author

Pulito-Cueto, Verónica, Genre Romero, Fernanda, Remuzgo-Martinez, Sara, Sevilla-Pérez, Belén, Ortego-Centeno, Norberto, Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Belmar-Vega, Lara, Gómez-Fernández, Cristina, Mora-Gil, María Sebastián, Caminal-Montero, Luis, Collado, Paz, Fernández-Nebro, Antonio, Díaz-Cordoves, Gisela, Cigarran, Secundino, Calviño, Jesús, Cobelo, Carmen, Argila, Diego de, Sánchez Pérez, Javier, Uriarte-Ecenarro, Miren, Rubio Romero, Esteban, León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Martin Ibáñez, Javier, Castañeda, Santos, González-Gay, M. A., Blanco, Ricardo, López-Mejías, Raquel, Martín-Penagos, Luis, Pulito-Cueto, Verónica, Genre Romero, Fernanda, Remuzgo-Martinez, Sara, Sevilla-Pérez, Belén, Ortego-Centeno, Norberto, Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Belmar-Vega, Lara, Gómez-Fernández, Cristina, Mora-Gil, María Sebastián, Caminal-Montero, Luis, Collado, Paz, Fernández-Nebro, Antonio, Díaz-Cordoves, Gisela, Cigarran, Secundino, Calviño, Jesús, Cobelo, Carmen, Argila, Diego de, Sánchez Pérez, Javier, Uriarte-Ecenarro, Miren, Rubio Romero, Esteban, León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Martin Ibáñez, Javier, Castañeda, Santos, González-Gay, M. A., Blanco, Ricardo, López-Mejías, Raquel, and Martín-Penagos, Luis

Published
2023

8. IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms

Author

Batista Liz, Joao Carlos, primary, Genre, Fernanda, additional, Pulito-Cueto, Verónica, additional, Remuzgo-Martínez, Sara, additional, Prieto-Peña, Diana, additional, Márquez, Ana, additional, Ortego-Centeno, Norberto, additional, Leonardo, María Teresa, additional, Peñalba, Ana, additional, Narváez, Javier, additional, Martín-Penagos, Luis, additional, Belmar-Vega, Lara, additional, Gómez-Fernández, Cristina, additional, Miranda-Filloy, José A., additional, Caminal-Montero, Luis, additional, Collado, Paz, additional, De Árgila, Diego, additional, Quiroga-Colina, Patricia, additional, Vicente-Rabaneda, Esther F., additional, Triguero-Martínez, Ana, additional, Rubio, Esteban, additional, León Luque, Manuel, additional, Blanco-Madrigal, Juan María, additional, Galíndez-Agirregoikoa, Eva, additional, Martín, Javier, additional, Gualillo, Oreste, additional, Blanco, Ricardo, additional, Castañeda, Santos, additional, González-Gay, Miguel A., additional, and López-Mejías, Raquel, additional

Published
2022
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9. IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms

Author

European Commission, Instituto de Salud Carlos III, Xunta de Galicia, Batista-Liz, Joao Carlos, Genre, Fernanda, Pulito-Cueto, Verónica, Remuzgo-Martínez, Sara, Prieto-Peña, Diana, Márquez, Ana, Ortego-Centeno, N., Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Martín-Penagos, Luis, Belmar, Lara, Gómez Fernández, Cristina, Miranda-Filloy, J. A., Caminal-Montero, Luis, Collado, Paz, Árgila, Diego de, Quiroga, Patricia, Vicente, Esther, Triguero-Martínez, Ana, Rubio, Esteban, León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Martín, Javier, Gualillo, Oreste, Blanco, Ricardo, Castañeda, Santos, González-Gay, M. A., López-Mejías, Raquel, European Commission, Instituto de Salud Carlos III, Xunta de Galicia, Batista-Liz, Joao Carlos, Genre, Fernanda, Pulito-Cueto, Verónica, Remuzgo-Martínez, Sara, Prieto-Peña, Diana, Márquez, Ana, Ortego-Centeno, N., Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Martín-Penagos, Luis, Belmar, Lara, Gómez Fernández, Cristina, Miranda-Filloy, J. A., Caminal-Montero, Luis, Collado, Paz, Árgila, Diego de, Quiroga, Patricia, Vicente, Esther, Triguero-Martínez, Ana, Rubio, Esteban, León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Martín, Javier, Gualillo, Oreste, Blanco, Ricardo, Castañeda, Santos, González-Gay, M. A., and López-Mejías, Raquel

Abstract

CD40, BLK and BANK1 genes involved in the development and signaling of B-cells are identified as susceptibility loci for numerous inflammatory diseases. Accordingly, we assessed the potential influence of CD40, BLK and BANK1 on the pathogenesis of immunoglobulin-A vasculitis (IgAV), predominantly a B-lymphocyte inflammatory condition. Three genetic variants within CD40 (rs1883832, rs1535045, rs4813003) and BLK (rs2254546, rs2736340, rs2618476) as well as two BANK1 polymorphisms (rs10516487, rs3733197), previously associated with inflammatory diseases, were genotyped in 382 Caucasian patients with IgAV and 955 sex- and ethnically matched healthy controls. No statistically significant differences were observed in the genotype and allele frequencies of CD40, BLK and BANK1 when IgAV patients and healthy controls were compared. Similar results were found when CD40, BLK and BANK1 genotypes or alleles frequencies were compared between patients with IgAV stratified according to the age at disease onset or to the presence/absence of gastrointestinal or renal manifestations. Moreover, no CD40, BLK and BANK1 haplotype differences were disclosed between patients with IgAV and healthy controls and between patients with IgAV stratified according to the clinical characteristics mentioned above. Our findings indicate that CD40, BLK and BANK1 do not contribute to the genetic background of IgAV.

Published
2022

10. Role of the IL33 and IL1RL1 pathway in the pathogenesis of Immunoglobulin A vasculitis

Author

European Commission, Instituto de Salud Carlos III, Xunta de Galicia, Prieto-Peña, Diana, Remuzgo-Martínez, Sara, Genre, Fernanda, Pulito-Cueto, Verónica, Atienza-Mateo, B., Llorca, Javier, Sevilla-Pérez, Belén, Ortego-Centeno, N., Márquez, Ana, Lera-Gómez, L., Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Martín-Penagos, Luis, Rodrigo, Emilio, Miranda-Filloy, J. A., Caminal-Montero, Luis, Collado, Paz, Sánchez Pérez, J., Árgila, Diego de, Rubio, E., León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Gualillo, Oreste, Martín, J., Castañeda, Santos, Blanco, Ricardo, González-Gay, M. A., López-Mejías, Raquel, European Commission, Instituto de Salud Carlos III, Xunta de Galicia, Prieto-Peña, Diana, Remuzgo-Martínez, Sara, Genre, Fernanda, Pulito-Cueto, Verónica, Atienza-Mateo, B., Llorca, Javier, Sevilla-Pérez, Belén, Ortego-Centeno, N., Márquez, Ana, Lera-Gómez, L., Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Martín-Penagos, Luis, Rodrigo, Emilio, Miranda-Filloy, J. A., Caminal-Montero, Luis, Collado, Paz, Sánchez Pérez, J., Árgila, Diego de, Rubio, E., León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Gualillo, Oreste, Martín, J., Castañeda, Santos, Blanco, Ricardo, González-Gay, M. A., and López-Mejías, Raquel

Abstract

Cytokines signalling pathway genes are crucial factors of the genetic network underlying the pathogenesis of Immunoglobulin-A vasculitis (IgAV), an inflammatory vascular condition. An influence of the interleukin (IL)33- IL1 receptor like (IL1RL)1 signalling pathway on the increased risk of several immune-mediated diseases has been described. Accordingly, we assessed whether the IL33-IL1RL1 pathway represents a novel genetic risk factor for IgAV. Three tag polymorphisms within IL33 (rs3939286, rs7025417 and rs7044343) and three within IL1RL1 (rs2310173, rs13015714 and rs2058660), that also were previously associated with several inflammatory diseases, were genotyped in 380 Caucasian IgAV patients and 845 matched healthy controls. No genotypes or alleles differences were observed between IgAV patients and controls when IL33 and IL1RL1 variants were analysed independently. Likewise, no statistically significant differences were found in IL33 or IL1RL1 genotype and allele frequencies when IgAV patients were stratified according to the age at disease onset or to the presence/absence of gastrointestinal (GI) or renal manifestations. Similar results were disclosed when IL33 and IL1RL1 haplotypes were compared between IgAV patients and controls and between IgAV patients stratified according to the clinical characteristics mentioned above. Our results suggest that the IL33-IL1RL1 signalling pathway does not contribute to the genetic network underlying IgAV.

Published
2021

11. BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis

Author

European Commission, Instituto de Salud Carlos III, Gobierno de Cantabria, Xunta de Galicia, Prieto-Peña, Diana, Genre, Fernanda, Remuzgo-Martínez, Sara, Pulito-Cueto, Verónica, Atienza-Mateo, B., Llorca, Javier, Sevilla-Pérez, B., Ortego-Centeno, N., Lera-Gómez, Leticia, Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Martín-Penagos, Luis, Rodrigo, E., Miranda-Filloy, J. A., Caminal-Montero, Luis, Collado, Paz, Sánchez Pérez, J., Árgila, Diego de, Rubio, E., León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Gualillo, Oreste, Martín, J., Castañeda, Santos, Blanco, R., González-Gay, M. A., López-Mejías, Raquel, European Commission, Instituto de Salud Carlos III, Gobierno de Cantabria, Xunta de Galicia, Prieto-Peña, Diana, Genre, Fernanda, Remuzgo-Martínez, Sara, Pulito-Cueto, Verónica, Atienza-Mateo, B., Llorca, Javier, Sevilla-Pérez, B., Ortego-Centeno, N., Lera-Gómez, Leticia, Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Martín-Penagos, Luis, Rodrigo, E., Miranda-Filloy, J. A., Caminal-Montero, Luis, Collado, Paz, Sánchez Pérez, J., Árgila, Diego de, Rubio, E., León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Gualillo, Oreste, Martín, J., Castañeda, Santos, Blanco, R., González-Gay, M. A., and López-Mejías, Raquel

Abstract

BAFF, APRIL and BAFF-R are key proteins involved in the development of B-lymphocytes and autoimmunity. Additionally, BAFF, APRIL and BAFFR polymorphisms were associated with immune-mediated conditions, being BAFF GCTGT>A a shared insertion-deletion genetic variant for several autoimmune diseases. Accordingly, we assessed whether BAFF, APRIL and BAFFR represent novel genetic risk factors for Immunoglobulin-A vasculitis (IgAV), a predominantly B-lymphocyte inflammatory condition. BAFF rs374039502, which colocalizes with BAFF GCTGT>A, and two tag variants within APRIL (rs11552708 and rs6608) and BAFFR (rs7290134 and rs77874543) were genotyped in 386 Caucasian IgAV patients and 806 matched healthy controls. No genotypes or alleles differences were observed between IgAV patients and controls when BAFF, APRIL and BAFFR variants were analysed independently. Likewise, no statistically significant differences were found in the genotype and allele frequencies of BAFF, APRIL or BAFFR when IgAV patients were stratified according to the age at disease onset or to the presence/absence of gastrointestinal (GI) or renal manifestations. Similar results were disclosed when APRIL and BAFFR haplotypes were compared between IgAV patients and controls and between IgAV patients stratified according to the clinical characteristics mentioned above. Our results suggest that BAFF, APRIL and BAFFR do not contribute to the genetic network underlying IgAV.

Published
2021

12. Role of IRF5 in the pathogenesis of immunoglobulin-A vasculitis

Author

Genre, Fernanda, Remuzgo-Martínez, Sara, Prieto-Peña, Diana, Atienza-Mateo, B., Pulito-Cueto, Verónica, Llorca, J., Sevilla-Pérez, Belén, Ortego-Centeno, N., Lera-Gómez, L., Leonardo, María Teresa, Peñalba, Ana, Cabero, M.J., Martín-Penagos, Luis, Miranda-Filloy, J. A., Navas Parejo, A., Sánchez Pérez, J., Árgila, Diego de, Rubio, E., León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Blanco, R., Gualillo, Oreste, Martín, J., Castañeda, Santos, González-Gay, M. A., López-Mejías, Raquel, Genre, Fernanda, Remuzgo-Martínez, Sara, Prieto-Peña, Diana, Atienza-Mateo, B., Pulito-Cueto, Verónica, Llorca, J., Sevilla-Pérez, Belén, Ortego-Centeno, N., Lera-Gómez, L., Leonardo, María Teresa, Peñalba, Ana, Cabero, M.J., Martín-Penagos, Luis, Miranda-Filloy, J. A., Navas Parejo, A., Sánchez Pérez, J., Árgila, Diego de, Rubio, E., León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Blanco, R., Gualillo, Oreste, Martín, J., Castañeda, Santos, González-Gay, M. A., and López-Mejías, Raquel

Abstract

OBJECTIVES: Interferon regulatory factor 5 (IRF5) is a major regulator of type I interferon induction and is also critical to produce pro-inflammatory cytokines. An influence of IRF5 genetic variants on the increased risk of immune-mediated diseases has been described. Accordingly, we aimed to evaluate the implication of IRF5 in the pathogenesis of Immunoglobulin-A vasculitis (IgAV), an inflammatory vascular pathology. METHODS: Three tag genetic variants (rs2004640, rs2070197 and rs10954213), representative of 3 different haplotype blocks within IRF5, were genotyped in 372 Caucasian patients with IgAV and 876 sex and ethnically matched healthy controls by TaqMan assays. RESULTS: No significant differences in the genotype and allele frequencies between patients with IgAV and healthy controls were observed when each IRF5 polymorphism was evaluated independently. Likewise, no significant differences between patients with IgAV and healthy controls were found when we assessed the three IRF5 polymorphisms combined, conforming haplotypes. In addition, there were no significant differences in genotype, allele and haplotype frequencies of IRF5 when patients with IgAV were stratified according to the age at disease onset or to the presence/absence of gastrointestinal or renal manifestations. CONCLUSIONS: Our results do not support an influence of IRF5 on the pathogenesis of IgAV.

Published
2020

13. Influence of IL17A gene on the pathogenesis of immunoglobulin-A vasculitis

Author

López-Mejías, Raquel, Genre, Fernanda, Remuzgo-Martínez, Sara, Pulito-Cueto, Verónica, Sevilla-Pérez, Belén, Llorca, J., Ortego-Centeno, N., Mijares, V., Lera-Gómez, L., Leonardo, María Teresa, Peñalba, Ana, Cabero, M.J., Martín-Penagos, Luis, Miranda-Filloy, J. A., Navas Parejo, A., Sánchez Pérez, J., Árgila, Diego de, Rubio, E., León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Martín, J., Blanco, R., Castañeda, Santos, González-Gay, M. A., López-Mejías, Raquel, Genre, Fernanda, Remuzgo-Martínez, Sara, Pulito-Cueto, Verónica, Sevilla-Pérez, Belén, Llorca, J., Ortego-Centeno, N., Mijares, V., Lera-Gómez, L., Leonardo, María Teresa, Peñalba, Ana, Cabero, M.J., Martín-Penagos, Luis, Miranda-Filloy, J. A., Navas Parejo, A., Sánchez Pérez, J., Árgila, Diego de, Rubio, E., León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Martín, J., Blanco, R., Castañeda, Santos, and González-Gay, M. A.

Abstract

OBJECTIVES: Cytokines signaling pathway genes represent a key component of the genetic network implicated in the pathogenesis of immunoglobulin-A vasculitis (IgAV), an inflammatory vascular pathology. Interleukin (IL)17A is described as a genetic risk locus for some autoimmune diseases, such as giant cell arteritis and spondyloarthritis. Accordingly, we aimed to determine the potential influence of IL17A on the pathogenesis of IgAV. METHODS: Five IL17A tag polymorphisms (rs4711998, rs8193036, rs3819024, rs2275913 and rs7747909), which cover the major variability of this gene, were genotyped in 360 Caucasian patients with IgAV and 1,003 sex and ethnically matched healthy controls using TaqMan probes. RESULTS: No statistically significant differences between patients with IgAV and healthy controls were observed when each IL17A genetic variant was analysed independently. Similarly, no statistically significant differences between patients with IgAV and healthy controls were found when the five IL17A polymorphisms were evaluated combined conforming haplotypes. In addition, there were no statistically significant differences in genotype, allele and haplotype frequencies of IL17A when patients with IgAV were stratified according to the age at disease onset or to the presence/absence of gastrointestinal or renal manifestations. CONCLUSIONS: Our results do not support an influence of IL17A on the pathogenesis of IgAV.

Published
2020

15. Comunidades de aprendizaje en entornos colectivos

Author

Mallo Zurdo, María, Peñalba, Ana, and Martín Rubio, Irene

Subjects
Educación, education, Architecture, Arquitectura [Àrees temàtiques de la UPC], Arquitectura
Abstract

La presente comunicación tiene como objetivo analizar las diferentes condiciones que son necesarias para que se produzca el aprendizaje dentro de entornos de trabajo de estructura no convencional. Para ello, utilizamos como ejemplos los Colectivos de arquitectura tan prolíficos en estas últimas décadas. La palabra “Colectivo” está sometida a un fuerte debate ya que su definición acaba siempre siendo difusa... ¿es un colectivo una agrupación de 4 personas? ¿es una cuestión de número, de posicionamiento o de metodología de trabajo?. La Confianza Generalmente las comunidades de aprendizaje están formadas por personas que se comprometen en un proceso de aprendizaje colectivo a través de un entorno que permite la producción de fricciones para compartir el conocimiento. En la teoría para la creación del conocimiento de Nonaka & Konno (1998), se introduce el concepto japonés de “ba” que traducido significa “lugar”, como un espacio compartido donde se produce la gestión del conocimiento. Explica como el conocimiento se adquiere a través de la experiencia de uno mismo y del reflejo que deja la de otros. Para que esto ocurra el “ba” requiere que los individuos eliminen barreras entre unos y otros en una atmosfera que enfatice “cuidado, amor, confianza y compromiso”. A esto Kolb and Kolb (2005) añaden que para mantener este espacio es necesaria una estructura de soporte en la que los miembros puedan confiar, y en el que se comprendan sus diferencias a través de la conversación. La confianza, la comunicación y la afectividad son elementos imprescindibles en una estructura de trabajo en colectivo. Esto da lugar a una falta de protocolos de actuación a la hora de introducir nuevos miembros en el grupo. Las condiciones necesarias para incorporarse en estas estructuras difieren mucho de un colectivo a otro. En algunos casos esta anexión se produce exclusivamente por criterios de índole profesional, en otras ocasiones son vínculos afectivos ligados a la amistad o empatía personal lo que las inducen e incluso hay casos donde el puro azar por necesidades diversas conlleva a la exitosa incorporación de un nuevo miembro. Este punto es uno de los que mejor evidencia la diferencia entre estos espacios de aprendizaje y los espacios de Coworking y Networking, en los cuales aunque se establecen relaciones profesionales, los niveles de sinergias y de aprendizaje son muy inferiores. La identidad Las “Community of practices” (Cop) son consideradas como un tipo de comunidad de aprendizaje (Lave & Wenger, 1991, Wenger, 1998, Wenger et al. 2002) que explica e ilustra los desafíos que estas comunidades presentan. Generalmente, se describen como un grupo de gente conectada por un interés común y que definen sus identidades a través del rol que tienen y de la relación que comparten con la actividad del grupo. En el caso de los colectivos de arquitectura estos conceptos se presenta de formas diferentes. Existen colectivos en los que se desvincula completamente la identidad personal de la identidad grupal, prevaleciendo esta última y configurándose a través de los intereses y objetivos comunes. Sin embargo otros colectivos defienden fuertemente la identidad personal y profesional de cada individuo que lo forma y el interés común se reduce a la necesidad de compartir experiencias y establecer sinergias. Por otro lado, Li et al (2009) muestra como las “Community of practices” (Cop) tienen una falta de consistencia en la interpretación de su concepto que hace difícil el describir, desarrollar y medir su efectividad. En los entornos de colectivos es común describirse a través del "hacer", entendiendo esto no como un hándicap sino como una manera de permanecer abiertos a reinventarse con cada nuevo proyecto. Grupos Abiertos o Cerrados Una comunidad puede existir en el tiempo a pesar de que cambien sus participantes. (Lave & Wenger, 1991, Wenger, 1998, Wenger et al. 2002). La mayoría de los colectivos que conocemos empiezan a trabajar como estructuras abiertas, con un número difuso de integrantes y con grandes diferencias de compromiso entre los miembros. Sin embargo, con el paso de los años y la evolución de la estructura se producen dos situaciones opuestas: 1. Colectivos que se consolidan y se cierran, formados por individuos con una implicación total en la estructura de trabajo y unos objetivos comunes. En estos casos el número de integrantes suele ser reducido o haber disminuido desde su formación y al producirse una especialización de los roles de trabajo entre los diferentes miembros, los entornos de aprendizaje se amplían a la interactuación puntual con personas ajenas al colectivo. Estos aprendizajes están en cierto modo dirigidos y también son más eficaces porque se eligen a priori los agentes externos con los que relacionarse e intercambiar conocimientos, sean estos profesionales de otras disciplinas u otros colectivos. Otra forma de interactuación suele ser a través de talleres o actividades públicas con participación ciudadana. Lo cual produce el acercamiento a otros agentes sociales, abriendo y enriqueciendo la propia disciplina. 2. En el otro extremo están los colectivos que mantienen una estructura abierta en el tiempo, provocando un aumento constante del número de miembros y un amplio abanico de niveles de implicación. En estos casos no existe un objetivo común ni una metodología de trabajo predeterminada sino que se producen asociaciones puntuales y acotadas en el tiempo. De esta manera los niveles de aprendizaje se mantienen elevados dentro del propio colectivo por estar en constante cambio, lo que no implica que también se produzcan las interactuaciones mencionadas anteriormente con otros agentes. Conclusión Los colectivos de arquitectura pueden considerarse comunidades de aprendizaje con diferentes configuraciones y características comunes como la paridad, la confianza y la tendencia a establecer redes con otros grupos. Y muestran como aprendizaje y producción pueden funcionar dentro de una misma entidad. Por otro lado, su nivel de adaptabilidad a los retos reales del entorno externo que les rodea influye en la permanencia o extinción de estas estructuras de trabajo.

Published
2017

17. Espacios de aprendizaje en las comunidades de prácticas: el caso de las asociaciones de jóvenes arquitectos

Author

Martín Rubio, Irene, Mallo Zurdo, María, and Peñalba, Ana

Subjects
Educación, Arquitectura
Abstract

Este estudio ha revisado la teoría sobre comunidades de prácticas y espacios de aprendizaje aplicado a la realidad de jóvenes profesionales que colaboran entre sí para adquirir experiencia y compartir su banco de ideas en concursos de obras. Estamos ante un caso en el que la profesión se está redefiniendo y cobran protagonismo las relaciones de aprendizaje y refuerzo mutuo. Nos hemos centrado en la revisión de casos de asociaciones de jóvenes arquitectos españoles, sería conveniente ir ampliado la muestra a otro tipo de profesiones.

Published
2014

18. Calciphylaxis. A review of 9 cases

Author

Loidi Pascual, Leire, primary, Valcayo Peñalba, Ana, additional, Oscoz Jaime, Saioa, additional, Córdoba Iturriagagoitia, Alicia, additional, Rodil Fraile, Raquel, additional, and Yanguas Bayona, Juan Ignacio, additional

Published
2016
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19. Calcifilaxia. Estudio de 9 casos

Author

Loidi Pascual, Leire, primary, Valcayo Peñalba, Ana, additional, Oscoz Jaime, Saioa, additional, Córdoba Iturriagagoitia, Alicia, additional, Rodil Fraile, Raquel, additional, and Yanguas Bayona, Juan Ignacio, additional

Published
2016
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22. Occult Pneumonia in Infants With High Fever Without Source

Author

Mintegi, Santiago, primary, Benito, Javier, additional, Pijoan, Jose Ignacio, additional, Marañon, Rafael, additional, Peñalba, Ana, additional, Gonzalez, Andres, additional, Muñoz, Gisela, additional, Luaces, Carles, additional, and Claret, Gemma, additional

Published
2010
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26. Eccrine Porocarcinoma.

Author

Orella, Jose Angel Lozano, Peñalba, Ana Valcayo, Juan, Carlos Colas San, Nadal, Rosario Vives, Morrondo, Juan Castro, and Alvarez, Teresa Tuñon

Subjects
*SWEAT gland diseases, *SWEAT glands, *LYMPH nodes, *METASTASIS, *CANCER, *PATIENTS
Abstract

BACKGROUND. Eccrine porocarcinoma is a rare malignancy of the eccrine sweat gland and usually has a long-standing growth on a lower extremity. OBJECTIVE. The aim of this review was to analyze clinical and histopathological findings of eccrine porocarcinoma. METHODS. We report nine cases of eccrine porocarcinoma that we have seen during last 10 years. RESULTS. Eccrine porocarcinoma affects elderly patients in both sexes and is usually found on the lower extremities, but in our review it is similar on the head. The mean size was 1.9 Cm in our cases. Elective primary treatment was excision and we did not perform elective lymph node dissection. We have not found evidence of metastases in any of our cases. [ABSTRACT FROM AUTHOR]

Published
1997
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27. Influence of IL17A gene on the pathogenesis of immunoglobulin-A vasculitis.

Author

López-Mejías R, Genre F, Remuzgo-Martínez S, Pulito-Cueto V, Sevilla-Pérez B, Llorca J, Ortego-Centeno N, Mijares V, Lera-Gómez L, Leonardo MT, Peñalba A, Cabero MJ, Martín-Penagos L, Miranda-Filloy JA, Navas Parejo A, Sánchez Pérez J, de Argila D, Rubio E, León Luque M, Blanco-Madrigal JM, Galíndez-Agirregoikoa E, Martín J, Blanco R, Castañeda S, and González-Gay MA

Subjects
Case-Control Studies, Gene Regulatory Networks, Haplotypes, Humans, Polymorphism, Single Nucleotide, Vasculitis pathology, Genetic Predisposition to Disease, Immunoglobulin A, Interleukin-17 genetics, Vasculitis genetics
Abstract

Objectives: Cytokines signaling pathway genes represent a key component of the genetic network implicated in the pathogenesis of immunoglobulin-A vasculitis (IgAV), an inflammatory vascular pathology. Interleukin (IL)17A is described as a genetic risk locus for some autoimmune diseases, such as giant cell arteritis and spondyloarthritis. Accordingly, we aimed to determine the potential influence of IL17A on the pathogenesis of IgAV., Methods: Five IL17A tag polymorphisms (rs4711998, rs8193036, rs3819024, rs2275913 and rs7747909), which cover the major variability of this gene, were genotyped in 360 Caucasian patients with IgAV and 1,003 sex and ethnically matched healthy controls using TaqMan probes., Results: No statistically significant differences between patients with IgAV and healthy controls were observed when each IL17A genetic variant was analysed independently. Similarly, no statistically significant differences between patients with IgAV and healthy controls were found when the five IL17A polymorphisms were evaluated combined conforming haplotypes. In addition, there were no statistically significant differences in genotype, allele and haplotype frequencies of IL17A when patients with IgAV were stratified according to the age at disease onset or to the presence/absence of gastrointestinal or renal manifestations., Conclusions: Our results do not support an influence of IL17A on the pathogenesis of IgAV.

Published
2020

28. Role of IRF5 in the pathogenesis of immunoglobulin-A vasculitis.

Author

Genre F, Remuzgo-Martínez S, Prieto-Peña D, Atienza-Mateo B, Pulito-Cueto V, Llorca J, Sevilla-Pérez B, Ortego-Centeno N, Lera-Gómez L, Leonardo MT, Peñalba A, Cabero MJ, Martín-Penagos L, Miranda-Filloy JA, Navas Parejo A, Sánchez Pérez J, de Argila D, Rubio E, León Luque M, Blanco-Madrigal JM, Galíndez-Agirregoikoa E, Blanco R, Gualillo O, Martín J, Castañeda S, González-Gay MA, and López-Mejías R

Subjects
Case-Control Studies, Genotype, Haplotypes, Humans, Polymorphism, Single Nucleotide, Genetic Predisposition to Disease, Immunoglobulin A, Interferon Regulatory Factors genetics, Vasculitis genetics
Abstract

Objectives: Interferon regulatory factor 5 (IRF5) is a major regulator of type I interferon induction and is also critical to produce pro-inflammatory cytokines. An influence of IRF5 genetic variants on the increased risk of immune-mediated diseases has been described. Accordingly, we aimed to evaluate the implication of IRF5 in the pathogenesis of Immunoglobulin-A vasculitis (IgAV), an inflammatory vascular pathology., Methods: Three tag genetic variants (rs2004640, rs2070197 and rs10954213), representative of 3 different haplotype blocks within IRF5, were genotyped in 372 Caucasian patients with IgAV and 876 sex and ethnically matched healthy controls by TaqMan assays., Results: No significant differences in the genotype and allele frequencies between patients with IgAV and healthy controls were observed when each IRF5 polymorphism was evaluated independently. Likewise, no significant differences between patients with IgAV and healthy controls were found when we assessed the three IRF5 polymorphisms combined, conforming haplotypes. In addition, there were no significant differences in genotype, allele and haplotype frequencies of IRF5 when patients with IgAV were stratified according to the age at disease onset or to the presence/absence of gastrointestinal or renal manifestations., Conclusions: Our results do not support an influence of IRF5 on the pathogenesis of IgAV.

Published
2020

29. [Bullous hemorrhagic dermatosis induced by heparin: description of 2 new cases].

Author

Loidi Pascual L, Valcayo Peñalba A, Yerani Ruiz de Azúa Ciria A, and Yanguas Bayona I

Subjects
Aged, Aspirin therapeutic use, Brain Ischemia drug therapy, Cerebral Hemorrhage chemically induced, Enoxaparin therapeutic use, Humans, Male, Thrombocytopenia chemically induced, Anticoagulants adverse effects, Drug Eruptions etiology, Enoxaparin adverse effects, Hemorrhage chemically induced, Skin Diseases, Vesiculobullous chemically induced
Published
2014
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30. [Acute generalized exanthematous pustulosis induced by omeprazole].

Author

Nantes Castillejo O, Zozaya Urmeneta JM, Valcayo Peñalba A, and Martínez-Peñuela Virseda JM

Subjects
Acute Disease, Aged, Aged, 80 and over, Female, Humans, Male, Middle Aged, Drug Eruptions etiology, Exanthema chemically induced, Omeprazole adverse effects, Proton Pump Inhibitors adverse effects, Skin Diseases, Vesiculobullous chemically induced
Abstract

Acute generalized exanthematous pustulosis (AGEP) comprises a group of eruptions characterized by several small sterile pustules over an erythematous-edematous skin. These eruptions are usually drug induced and show some characteristics that suggest an immunologic background. Treatment is based on withdrawal of the drug causing the eruption. Prognosis is generally good and the skin lesions usually resolve in a few days with characteristic postpustular pin-point desquamation. We report three cases of AGEP induced by omeprazole, a drug with a good safety profile. Some adverse cutaneous reactions have been described as secondary effects. However, to our knowledge, no cases of omeprazole-induced AGEP have previously been reported. AGEP related to other proton pump inhibitors is exceptional.

Published
2008
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