Search Results - "Arias, Andrés Augusto"

Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease by Mantilla, Carolina, Toro, Mónica, Sepúlveda, María Elsy, Insuasty, Margarita, Di Filippo, Diana, López, Juan Álvaro, Baquero, Carolina, Navas, María Cristina, Arias, Andrés Augusto

“…Type III glycogen storage disease (GSD III) is an autosomal recessive disorder in which a mutation in the AGL gene causes deficiency of the glycogen…”
Get full text

T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency by Brigida, Immacolata, Zoccolillo, Matteo, Cicalese, Maria Pia, Pfajfer, Laurène, Barzaghi, Federica, Scala, Serena, Oleaga-Quintas, Carmen, Álvarez-Álvarez, Jesus A., Sereni, Lucia, Giannelli, Stefania, Sartirana, Claudia, Dionisio, Francesca, Pavesi, Luca, Benavides-Nieto, Marta, Basso-Ricci, Luca, Capasso, Paola, Mazzi, Benedetta, Rosain, Jeremie, Marcus, Nufar, Lee, Yu Nee, Somech, Raz, Degano, Massimo, Raiola, Giuseppe, Caorsi, Roberta, Picco, Paolo, Moncada Velez, Marcela, Khourieh, Joelle, Arias, Andrés Augusto, Bousfiha, Aziz, Issekutz, Thomas, Issekutz, Andrew, Boisson, Bertrand, Dobbs, Kerry, Villa, Anna, Lombardo, Angelo, Neven, Benedicte, Moshous, Despina, Casanova, Jean-Laurent, Franco, José Luis, Notarangelo, Luigi D., Scielzo, Cristina, Volpi, Stefano, Dupré, Loïc, Bustamante, Jacinta, Gattorno, Marco, Aiuti, Alessandro

“…ARPC1B is a key factor for the assembly and maintenance of the ARP2/3 complex that is involved in actin branching from an existing filament. Germline biallelic…”
Get full text

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis by Ogishi, Masato, Yang, Rui, Rodriguez, Rémy, Golec, Dominic P, Martin, Emmanuel, Philippot, Quentin, Bohlen, Jonathan, Pelham, Simon J, Arias, Andrés Augusto, Khan, Taushif, Ata, Manar, Al Ali, Fatima, Rozenberg, Flore, Kong, Xiao-Fei, Chrabieh, Maya, Laine, Candice, Lei, Wei-Te, Han, Ji Eun, Seeleuthner, Yoann, Kaul, Zenia, Jouanguy, Emmanuelle, Béziat, Vivien, Youssefian, Leila, Vahidnezhad, Hassan, Rao, V Koneti, Neven, Bénédicte, Fieschi, Claire, Mansouri, Davood, Shahrooei, Mohammad, Pekcan, Sevgi, Alkan, Gulsum, Emiroğlu, Melike, Tokgöz, Hüseyin, Uitto, Jouni, Hauck, Fabian, Bustamante, Jacinta, Abel, Laurent, Keles, Sevgi, Parvaneh, Nima, Marr, Nico, Schwartzberg, Pamela L, Latour, Sylvain, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie

“…Inborn errors of IFN-γ immunity can underlie tuberculosis (TB). We report three patients from two kindreds without EBV viremia or disease but with severe TB…”
Get full text

Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient by Arango-Franco, Carlos A., Moncada-Vélez, Marcela, Beltrán, Claudia Patricia, Berrío, Indira, Mogollón, Cristian, Restrepo, Andrea, Trujillo, Mónica, Osorio, Sara Daniela, Castro, Lorena, Gómez, Lina Vanessa, Muñoz, Ana María, Molina, Verónica, del Río Cobaleda, Delsy Yurledy, Ruiz, Ana Cristina, Garcés, Carlos, Alzate, Juan Fernando, Cabarcas, Felipe, Orrego, Julio Cesar, Casanova, Jean-Laurent, Bustamante, Jacinta, Puel, Anne, Arias, Andrés Augusto, Franco, José Luis

“…Purpose CARD9 deficiency is an inborn error of immunity that predisposes otherwise healthy humans to mucocutaneous and invasive fungal infections, mostly…”
Get full text

Leishmania infantum expresses a mitochondrial nuclease homologous to EndoG that migrates to the nucleus in response to an apoptotic stimulus by Rico, Eva, Alzate, Juan Fernando, Arias, Andrés Augusto, Moreno, David, Clos, Joachim, Gago, Federico, Moreno, Inmaculada, Domínguez, Mercedes, Jiménez-Ruiz, Antonio

“…It is increasingly accepted that single-celled organisms, such as Leishmania parasites, are able to undergo a cell death process that resembles apoptosis in…”
Get full text

A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection by Casanova, Jean-Laurent, Su, Helen C., Abel, Laurent, Aiuti, Alessandro, Almuhsen, Saleh, Arias, Andres Augusto, Bastard, Paul, Biggs, Catherine, Bogunovic, Dusan, Boisson, Bertrand, Boisson-Dupuis, Stephanie, Bolze, Alexandre, Bondarenko, Anastasia, Bousfiha, Aziz, Brodin, Petter, Bustamante, Jacinta, Butte, Manish, Casari, Giorgio, Ciancanelli, Michael, Cobat, Aurelie, Condino-Neto, Antonio, Cooper, Megan, Dalgard, Clifton, Espinosa, Sara, Feldman, Hagit, Fellay, Jacques, Franco, Jose Luis, Hagin, David, Itan, Yuval, Jouanguy, Emmanuelle, Lucas, Carrie, Mansouri, Davood, Meyts, Isabelle, Milner, Joshua, Mogensen, Trine, Morio, Tomohiro, Ng, Lisa, Notarangelo, Luigi D., Okada, Satoshi, Ozcelik, Tayfun, Soler Palacín, Pere, Planas, Anna, Prando, Carolina, Puel, Anne, Pujol, Aurora, Redin, Claire, Renia, Laurent, Rodriguez Gallego, Jose Carlos, Quintana-Murci, Lluis, Sancho-Shimizu, Vanessa, Sankaran, Vijay, Seppänen, Mikko R.J., Shahrooei, Mohammad, Snow, Andrew, Spaan, András, Tangye, Stuart, Tur, Jordi Perez, Turvey, Stuart, Vinh, Donald C., von Bernuth, Horst, Wang, Xiaochuan, Zawadzki, Pawel, Zhang, Qian, Zhang, Shenying

“…SARS-CoV-2 infection displays immense inter-individual clinical variability, ranging from silent infection to lethal disease. The role of human genetics in…”
Get full text

Hacia una antropología de la universidad. Crítica decolonial de sus dispositivos cotidianos de poder by Andrés Augusto Arias Guzmán

“…The university as a modern social phenomenon needs to be transformed in order to confront the long centuries of colonialism in Latin America and its enormous…”
Get full text

Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency by Campbell, Tessa Mollie, Liu, Zhiyong, Zhang, Qian, Moncada-Velez, Marcela, Covill, Laura E, Zhang, Peng, Alavi Darazam, Ilad, Bastard, Paul, Bizien, Lucy, Bucciol, Giorgia, Lind Enoksson, Sara, Jouanguy, Emmanuelle, Karabela, Şemsi Nur, Khan, Taushif, Kendir-Demirkol, Yasemin, Arias, Andres Augusto, Mansouri, Davood, Marits, Per, Marr, Nico, Migeotte, Isabelle, Moens, Leen, Ozcelik, Tayfun, Pellier, Isabelle, Sendel, Anton, Şenoğlu, Sevtap, Shahrooei, Mohammad, Smith, C I Edvard, Vandernoot, Isabelle, Willekens, Karen, Kart Yaşar, Kadriye, Bergman, Peter, Abel, Laurent, Cobat, Aurélie, Casanova, Jean-Laurent, Meyts, Isabelle, Bryceson, Yenan T

“…Autosomal recessive IRF7 deficiency was previously reported in three patients with single critical influenza or COVID-19 pneumonia episodes. The patients'…”
Get full text

Clinical, immunological, and genetic characterization of Colombian patients with cutaneous recalcitrant warts by Rojas, Julián, Velásquez, Margarita María, López, Juan Álvaro, Jouanguy, Emmanuelle, Franco, José Luis, Arias, Andrés Augusto

“…Inborn errors of innate and intrinsic immunity are monogenic diseases that result in a predisposition to a whole spectrum of infectious diseases, including…”
Get full text

Hacia una antropología de la universidad. Crítica decolonial de sus dispositivos cotidianos de poder by Guzmán, Andrés Augusto Arias

“…La universidad como fenómeno social moderno necesita transformarse para enfrentar los largos siglos de colonialismo en América Latina y su enorme diversidad…”
Get full text

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis by Ogishi, Masato, Yang, Rui, Rodriguez, Rémy, Golec, Dominic, Martin, Emmanuel, Philippot, Quentin, Bohlen, Jonathan, Pelham, Simon, Arias, Andrés Augusto, Khan, Taushif, Ata, Manar, Al Ali, Fatima, Rozenberg, Flore, Kong, Xiao-Fei, Chrabieh, Maya, Laine, Candice, Lei, Wei-Te, Han, Ji Eun, Seeleuthner, Yoann, Kaul, Zenia, Jouanguy, Emmanuelle, Béziat, Vivien, Youssefian, Leila, Vahidnezhad, Hassan, Rao, V. Koneti, Neven, Bénédicte, Fieschi, Claire, Mansouri, Davood, Shahrooei, Mohammad, Pekcan, Sevgi, Alkan, Gulsum, Emiroğlu, Melike, Tokgöz, Hüseyin, Uitto, Jouni, Hauck, Fabian, Bustamante, Jacinta, Abel, Laurent, Keles, Sevgi, Parvaneh, Nima, Marr, Nico, Schwartzberg, Pamela, Latour, Sylvain, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie

“…Inborn errors of IFN-γ immunity can underlie tuberculosis (TB). We report three patients from two kindreds without EBV viremia or disease but with severe TB…”
Get full text

Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria by Philippot, Quentin, Ogishi, Masato, Bohlen, Jonathan, Puchan, Julia, Arias, Andrés Augusto, Nguyen, Tina, Martin-Fernandez, Marta, Conil, Clement, Rinchai, Darawan, Momenilandi, Mana, Mahdaviani, Seyed Alireza, Keramatipour, Mohammad, Rosain, Jérémie, Yang, Rui, Khan, Taushif, Neehus, Anna-Lena, Materna, Marie, Han, Ji Eun, Peel, Jessica, Mele, Federico, Weisshaar, Marc, Jovic, Sandra, Bastard, Paul, Lévy, Romain, Le Voyer, Tom, Zhang, Peng, Maglorius Renkilaraj, Majistor Raj Luxman, Arango-Franco, Carlos A, Pelham, Simon, Seeleuthner, Yoann, Pochon, Mathieu, Ata, Manar Mahmoud Ahmad, Al Ali, Fatima, Migaud, Mélanie, Soudée, Camille, Kochetkov, Tatiana, Molitor, Anne, Carapito, Raphael, Bahram, Seiamak, Boisson, Bertrand, Fieschi, Claire, Mansouri, Davood, Marr, Nico, Okada, Satoshi, Shahrooei, Mohammad, Parvaneh, Nima, Chavoshzadeh, Zahra, Cobat, Aurélie, Bogunovic, Dusan, Abel, Laurent, Tangye, Stuart G, Ma, Cindy S, Béziat, Vivien, Sallusto, Federica, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Casanova, Jean-Laurent, Puel, Anne

“…Patients with autosomal recessive (AR) IL-12p40 or IL-12Rβ1 deficiency display Mendelian susceptibility to mycobacterial disease (MSMD) due to impaired IFN-γ…”
Get more information

Clinical, immunologic and genetic characterization of Colombian patients with cutaneous recalcitrant warts by Rojas, Julián, Jouanguy, Emmanuelle, Juan Álvaro López, Franco, José Luis, Arias, Andrés Augusto

“…Inborn errors of innate and intrinsic immunity are monogenic diseases that result in predisposition to a whole spectrum of infectious diseases (for example,…”
Get full text

Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency by Arias, Andrés Augusto, Perez-Velez, Carlos M., Orrego, Julio César, Moncada-Velez, Marcela, Rojas, Jessica Lineth, Wilches, Alejandra, Restrepo, Andrea, Trujillo, Mónica, Garcés, Carlos, Arango-Ferreira, Catalina, González, Natalia, Oleaga-Quintas, Carmen, Fernández, Diana, Isaza-Correa, Johana Marcela, Gongóra, Diego Eduardo, Gonzalez-Loaiza, Daniel, Sierra, Juan Esteban, Casanova, Jean Laurent, Bustamante, Jacinta, Franco, José Luis

“…Purpose Mendelian susceptibility to mycobacterial disease is a rare clinical condition characterized by a predisposition to infectious diseases caused by…”
Get full text

Expresión y actividad de posibles polimorfismos provenientes de individuos normales en la proteína de 67 kd del sistema NADPH oxidasa utilizando el sistema COSphox by Arias, Andrés Augusto, Dinauer, Mary C., Ding, Jiabin, Matute, Juan David, Patiño, Pablo Javier

“…El sistema NADPH oxidasa de las células fagocíticas cumple una función importante durante la respuesta antimicrobiana del organismo. La activación de este…”
Get full text

Exome sequencing reveals gain-of-function mutations in STAT1 conferring predisposition to chronic mucocutaneous candidiasis and tuberculosis in six Colombian patients by Marcela Moncada-Vélez, Lucía Victoria Erazo-Borrás, Jesús Armando Álvarez-lvarez, Carlos Andrés Arango, Miyuki Tsumura, Satoshi Okada, Sara Daniela Osorio, Lorena Castro, Natalia González, Catalina Arango, Julio César Orrego, Lina Riaño, Juan Fernando Alzate, Felipe Cabarcas, Jean-Laurent Casanova, Jacinta Bustamante, Anne Puel, Andrés Augusto Arias, José Luis Franco

“…Background: The transcription factor STAT1 plays a critical role in the immune response against mycobacterial, viral and fungal infections. Different mutations…”
Get full text

Novel mutations in NCF4 gene confer non-classic chronic granulomatous disease with disseminated histoplasmosis in a Colombian child by Carlos Andrés Arango-Franco, Alejandro Nieto-Patlán, Marcela Moncada-Vélez, Jesús Armando Álvarez, Carmen Oleaga-Quinta, Caroline Deswarte, Juan Fernando Alzate, Felipe Cabarcas, Carlos Garcés, Julio César Orrego, Susana Pamela Mejía, Luz Elena Cano, Jean-Laurent Casanova, Jacinta Bustamante, José Luis Franco, Andrés Augusto Arias

“…Background: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by susceptibility to early-onset life-threatening bacterial and…”
Get full text

Next generation sequencing identifies mutations in Colombian patients with primary immunodeficiency diseases by Carlos Andrés Arango-Franco, Marcela Moncada-Vélez, Alexander Franco-Gallego, Lucía Victoria Erazo, Catalina Martínez, Sebastián Gutiérrez, Jesús Armando Álvarez, Manuela Molina, Diana Arboleda, Laura Naranjo, Juan Álvaro López, Juan Fernando Alzate, Felipe Cabarcas, Claudia Milena Trujillo-Vargas, Julio César Orrego, Satoshi Okada, Anne Puel, Jacinta Bustamante, Jean-Laurent Casanova, Andrés Augusto Arias, José Luis Franco

“…Background: The genetic etiology of several primary immunodeficiency diseases (PID) remains elusive. Next generation technologies represent a cost-effective…”
Get full text

Secuenciación completa del exoma como herramienta para el diagnóstico molecular de la enfermedad granulomatosa crónica by Manuela Molina, Diana Marcela Arboleda, Marcela Moncada, Gabriel Vélez, Juan Fernando Alzate, Felipe Cabarcas, José Luis Franco, Andrés Augusto Arias-Sierra, Juan Álvaro López

“…Antecedentes: La enfermedad granulomatosa crónica es una inmunodeficiencia primaria producida por mutaciones en los genes que codifican para alguna de las…”
Get full text

Enfermedad por almacenamiento de glucógeno de tipo III en pacientes colombianos: caracterización clínica y molecular by Mantilla, Carolina, Toro, Mónica, Sepúlveda, María Elsy, Insuasty, Margarita, di Filippo, Diana, López, Juan Álvaro, Baquero, Carolina, Navas, María Cristina, Arias, Andrés Augusto

“…Resumen Introducción. La enfermedad por almacenamiento de glucógeno de tipo III es una alteración autosómica recesiva, en la cual las mutaciones del gen AGL…”
Get full text