Buscar por Autor Franco Restrepo, José Luis
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| Fecha de publicación | Título | Autor(es) |
|---|---|---|
| 2020 | A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency | Franco Restrepo, José Luis; Franco Gallego, William Alexander; Arango Franco, Carlos Andrés; Peláez Sánchez, Ronald Guillermo; Kuehn, Hye Sun; Bernasconi, Andrea; Niemela, Julie E.; Almejun, María Belén; Goel, Shubham; Stoddard, Jennifer L.; Oleastro, Matías; Grunebaum, Eyal; Ballas, Zuhair; Cunningham Rundles, Charlotte; Fleisher, Thomas A.; Danielian, Silvia; Rosenzweig, Sergio D. |
| 2013 | A Phenotypic Approach for IUIS PID Classification and Diagnosis: Guidelines for Clinicians at the Bedside | Franco Restrepo, José Luis; Bousfiha, Ahmed Aziz; Jeddane, Leïla; Ailal, Fatima; Al Herz, Waleed; Conley, Mary Ellen; Cunningham Rundles, Charlotte; Etzioni, Amos; Fischer, Alain; Geha, Raif S.; Hammarström, Lennart; Nonoyama, Shigeaki; Ochs, Hans D.; Roifman, Chaim M.; Seger, Reinhard; Tang, Mimi L. K.; Puck, Jennifer M.; Chapel, Helen; Notarangelo, Luigi D.; Casanova, Jean Laurent |
| 2004 | Abnormal Expression of CD54 in Mixed Reactions of Mononuclear Cells from Hyper-IgE Syndrome Patients | Franco Restrepo, José Luis; Montoya Guarín, Carlos Julio; Rúgeles López, María Teresa; Patiño Grisales, Pablo Javier; Martínez Villarreal, Adriano Miguel |
| 2016 | Abordaje inmunológico del síndrome por deleción 22q11 | Vásquez Echeverri, Estefanía; Sierra, Federico; Trujillo Vargas, Claudia Milena; Orrego Arango, Julio César; Garcés Samudio, Carlos Guillermo; Lince, Rafael; Franco Restrepo, José Luis |
| 2012 | Advancing the management of primary immunodeficiency diseases in Latin America: Latin American Society for Immunodeficiencies (LASID) Initiatives | Condino Neto, Antonio; Franco Restrepo, José Luis; Espinosa Rosales, F. J.; Leiva, Lily E.; King, A.; Porras, O.; Oleastro, M.; Bezrodnik, L.; Grumach, A. S.; Costa Carvalho, B. T.; Sorensen, R. U. |
| 2023 | Anti‑GM‑CSF Neutralizing Autoantibodies in Colombian Patients with Disseminated Cryptococcosis | Arango‑Franco, Carlos Andres; Franco Restrepo, José Luis; Ramírez Sánchez, Isabel Cristina; Arango Bustamante, Karen; Moncada Vélez, Marcela; Rojas Silva, Julián; Gervais, Adrián; Patiño Giraldo, Santiago; Pérez Zapata, Lizeth Jazmín; Álvarez Álvarez, Jesús Armando; Orrego Arango, Julio César; Roncancio Villamil, Gustavo Eduardo; Boisson Dupuis, Stéphanie; Jouanguy, Emmanuelle; Abel, Laurent; Casanova, Jean Laurent; Bustamante, Jacinta; Puel, Anne; Migaud, Mélanie |
| 2014 | Attending to Warning Signs of Primary Immunodeficiency Diseases Across the Range of Clinical Practice | Franco Restrepo, José Luis; Costa Carvalho, Beatriz Tavares; Grumach, Anete Sevciovic; Espinosa Rosales, Francisco Javier; Leiva, Lily E.; King, Alejandra; Porras, Oscar; Bezrodnik, Liliana; Oleastro, Mathias; Sorensen, Ricardo U.; Condino Neto, Antonio |
| 2021 | Autoantibodies neutralizing type I IFNs are present in ~ 4% of uninfected individuals over 70 years old and account for ~ 20% of COVID-19 deaths | Franco Restrepo, José Luis; Bastard, Paul; Gervais, Adrian; Le Voyer, Tom; Rosain, Jérémie; Philippot, Quentin; Manry, Jérémy; Michailidis, Eleftherios; Hoffmann, Hans Heinrich; Eto, Shohei; Garcia Prat, Marina; Bizien, Lucy; Parra Martínez, Alba; Yang, Rui; Haljasmägi, Liis; Migaud, Mélanie; Särekannu, Karita; Maslovskaja, Julia; de Prost, Nicolas; Tandjaoui Lambiotte, Yacine; Luyt, Charles Edouard; Amador Borrero, Blanca; Gaudet, Alexandre; Poissy, Julien; Morel, Pascal; Richard, Pascale; Cognasse, Fabrice; Troya, Jesus; Trouillet Assant, Sophie; Belot, Alexandre; Saker, Kahina; Garçon, Pierre; Rivière, Jacques; Lagier, Jean Christophe; Gentile, Stéphanie; Rosen, Lindsey B.; Shaw, Elana; Morio, Tomohiro; Tanaka, Junko; Dalmau, David; Tharaux, Pierre Louis; Sene, Damien; Stepanian, Alain; Megarbane, Bruno; Triantafyllia, Vasiliki; Fekkar, Arnaud; Heath, James R.; Anaya, Juan Manuel; Solé Violán, Jordi; Imberti, Luisa; Biondi, Andrea; Bonfanti, Paolo; Castagnoli, Riccardo; Delmonte, Ottavia M.; Zhang, Yu; Snow, Andrew L.; Holland, Steven M.; Biggs, Catherine; Moncada Vélez, Marcela; Arias Sierra, Andrés Augusto; Lorenzo, Lazaro; Boucherit, Soraya; Coulibaly, Boubacar; Anglicheau, Dany; Planas, Anna M; Haerynck, Filomeen; Duvlis, Sotirija; Nussbaum, Robert L.; Ozcelik, Tayfun; Keles, Sevgi; Bousfiha, Ahmed A.; El Bakkouri, Jalila; Ramírez Santana, Carolina; Paul, Stéphane; Pan Hammarström, Qiang; Hammarström, Lennart; Dupont, Annabelle; Kurolap, Alina; Metz, Christine N.; Aiuti, Alessandro; AlKhater, Suzan; Arrestier, Romain; Baris Feldman, Hagit; Barreiros, Lucila A.; Bilguvar, Kaya; Boyarchuk, Oksana; Bourke, Nollaig M.; Burrel, Sonia; Casari, Giorgio; Chauvineau Grenier, Angélique; Ciceri, Fabio; Condino Neto, Antonio; Coulongeat, Matthieu; Czerkowicz, Jakub; Darragh, Duffy; Domínguez Garrido, Elena; Dorgham, Karim; Dyer, Adam H.; Fellay, Jacques; Gilardin, Laurent; Hagin, David; Halwani, Rabih; Isabelle, Meyts; Joost, Wauters; Kann, Nelli Y; Karakaya, Mahmut; Klocperk, Adam; Lampasona, Vito; Lau, Yu Lung; Leung, Daniel; Lifton, Richard P.; Loreto, Vidaur; Lucie, Roussel; Marlet, Julien; Mehlal, Sedkaoui Souad; Nussenzweig, Michel C; Miyuki, Tsumura; Monneret, Guillaume; Morandeira, Francisco; Narjes Saheb, Sharif-Askari; Prando, Carolina; Quintana Murci, Lluis; Rigo Bonnin, Raúl; Reyes, Luis Felipe; Rye Ostrowski, Sisse; Saheb, Sharif-Askari Narjes; Sahanic, Sabina; Sallette, Jérome; Kennelly, Sean P.; Shcherbina, Anna; Shrikant, Mane; Spaan, András N.; Stepanovskyy, Yurii; Tangye, Stuart G; Tancevski, Ivan; Venet, Fabienne; Vidigal, Mateus; Vinh, Donald C.; Wauters, Joost; Nukui, Yoko |
| 2015 | Broad-spectrum Antibodies Against self-antigens and Cytokines in RAG Deficiency | Franco Restrepo, José Luis; Walter, Jolan E.; Rosen, Lindsey B.; Csomos, Krisztian; Rosenberg, Jacob M.; Mathew, Divij; Keszei, Marton; Ujhazi, Boglarka; Chen, Karin; Lee, Yu Nee; Tirosh, Irit; Dobbs, Kerry; Al-Herz, Waleed; Cowan, Morton J.; Puck, Jennifer; Bleesing, Jack J.; Grimley, Michael S.; Malech, Harry; De Ravin, Suk See; Gennery, Andrew R.; Abraham, Roshini S.; Joshi, Avni Y.; Boyce, Thomas G.; Butte, Manish J.; Nadeau, Kari C.; Balboni, Imelda; Sullivan, Kathleen E.; Akhter, Javeed; Adeli, Mehdi; El-Feky, Reem A.; El-Ghoneimy, Dalia H.; Dbaibo, Ghassan; Wakim, Rima; Azzari, Chiara; Palma, Paolo; Cancrini, Caterina; Capuder, Kelly; Condino Neto, Antonio; Costa Carvalho, Beatriz T.; Bosco Oliveira, Joao Bosco; Roifman, Chaim; Buchbinder, David; Kumanovics, Attila; Niehues, Tim; Niehues, Tim; Schuetz, Catharina; Kuijpers, Taco; Yee, Christina; Chou, Janet; Masaad, Michel J.; Geha, Raif; Uzel, Gulbu; Gelman, Rebecca; Holland, Steven M.; Recher, Mike; Utz, Paul J.; Browne, Sarah K.; Notarangelo, Luigi D. |
| 2014 | Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency | Franco Restrepo, José Luis; Sanal, Ozden; Ikinciogullari, Aydan; Tezcan, Ilhan; Dogu, Figen; Sologuren, Ithaisa; Pedraza Sánchez, Sigifredo; Keser, Melike; Tanir, Gonul; Nieuwhof, Chris; Colino, Elena; Kumararatne, Dinakantha; Levy, Jacov; Kutukculer, Necil; Aytekin, Caner; Herrera Ramos, Estefanía; Bhatti, Micah; Karaca, Neslihan; Barbouche, Ridha; Broides, Arnon; Goudouris, Ekaterini; Ouederni, Monia; Parvaneh, Nima; Reisli, Ismail; Strickler, Alexis; Shcherbina, Anna; Somer, Ayper; Segal, Anthony; Ángel Moreno, Alfonso; Lezana Fernández, José Luis; Bejaoui, Mohamed; Bobadilla Del Valle, Miriam; Kachboura, Salem; Sentongo, Timothy; Mustapha, Imen Ben; Bustamante, Jacinta; Picard, Capucine; Puel, Anne; Boisson Dupuis, Stéphanie; Abel, Laurent; Casanova, Jean Laurent; Rodríguez Gallego, Carlos |
| 2023 | Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development | Franco Restrepo, José Luis; Mustillo, Peter J.; Sullivan, Kathleen E.; Chinn, Ivan K.; Notarangelo, Luigi D.; Haddad, Elie; Davies, E Graham; de la Morena, María Teresa; Hartog, Nicholas; Yu, Joyce E.; Hernández Trujillo, Vivian P.; Ip, Winnie; Gambineri, Eleonora; Hickey, Scott E.; Varga, Elizabeth; Markert, M Louise |
| 2011 | Critical issues and needs in management of primary immunodeficiency diseases in Latin America | Condino Neto, Antonio; Franco Restrepo, José Luis; Trujillo Vargas, Claudia Milena; Espinosa Rosales, F. J.; Leiva, L. E.; Rodríguez Quiroz, F.; King, A.; Lagos, M.; Oleastro, M.; Bezrodnik, L.; Grumach, A. S.; Costa Carvalho, B. T.; Sorensen, R. U. |
| 2015 | Current state and future perspectives of the Latin American Society for Immunodeficiencies (LASID) | Condino Neto, Antonio; Sorensen, Ricardo; Gómez Raccio, A. C.; King, A.; Espinosa-Rosales, F. J.; Franco Restrepo, José Luis |
| 2020 | Defective formation of IgA memory B cells, Th1 and Th17 cells in symptomatic patients with selective IgA deficiency | Moncada Vélez, Marcela; Franco Restrepo, José Luis; Franco Gallego, Alexander; Ahmadi, Fatemeh; Ash Dalm, Virgil; Lineth Rojas, Jessica; Orrego Arango, Julio César; Correa Vargas, Natalia; Hammarström, Lennart; Schreurs, Marco Wj; Dik, Willem A; van Hagen, P Martin; Boon, Louis; van Dongen, Jacques Jm; van der Burg, Mirjam; Pan Hammarström, Qiang; van Zelm, Menno C |
| 2020 | Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease | Trujillo Vargas, Claudia Milena; Franco Restrepo, José Luis; Orrego Arango, Julio; Gutiérrez Hincapié, Sebastián; Matsuda Lennikov, Mami; Chauvin, Samuel D.; Zou, Juan; Biancalana, Matthew; Deeb, Sally J.; Price, Susan; Su, Helen C.; Notarangelo, Giulia; Jiang, Ping; Morawski, Aaron; Kanellopoulou, Chrysi; Binder, Kyle; Mukherjee, Ratnadeep; Anibal, James T.; Sellers, Brian; Zheng, Lixin; He, Tingyan; George, Alex B.; Pittaluga, Stefania; Powers, Astin; Kleiner, David E; Kapuria, Devika; Ghany, Marc; Hunsberger, Sally; Cohen, Jeffrey I.; Uzel, Gulbu; Bergerson, Jenna; Wolfe, Lynne; Toro, Camilo; Gahl, William; Folio, Les R; Matthews, Helen; Angelus, Pam; Chinn, Ivan K; Orange, Jordan S; Ravell, Juan C.; Patel Niraj, Chandrakant; Raymond, Kimiyo; Patiroglu, Turkan; Unal, Ekrem; Karakukcu, Musa; Day, Alexandre; Mehta, Pankaj; Masutani, Evan; De Ravin, Suk S.; Malech, Harry L.; Altan Bonnet, Grégoire; Rao V, Koneti; Mann, Matthias; Lenardo, Michael J. |
| 2017 | Descripción fenotípica de 26 pacientes con síndrome de Ritscher-Schinzel (displasia cráneo-cerebelo-cardíaca o síndrome 3C) | Pira Paredes, Sonia Mercedes; Montoya Villada, Jorge Hernán; Franco Restrepo, José Luis; Moncada Vélez, Marcela; Cornejo Ochoa, José William |
| 2002 | Diagnóstico fenotípico de las inmunodeficiencias primarias en Antioquia, Colombia, 1994 - 2002 | Montoya Guarín, Carlos Julio; Henao Pérez, Julieta; Salgado Vélez, Helí; Olivares Gómez, María Margarita; López Quintero, Juan Álvaro; Rugeles López, Claudia; Franco Restrepo, José Luis; Orrego Arango, Julio César; García de Olarte, Diana; Patiño Grajales, Pablo Javier |
| 2003 | Estudios de la explosión respiratoria y el sistema NADPH oxidasa en dos pacientes con sospecha clínica de una inmunodeficiencia en las células fagocíticas | Matute Yepes, Juan David; Olivares Gómez, Maria Margarita; Rugeles López, Claudia; Montoya Guarín, Carlos Julio; Franco Restrepo, José Luis; Patiño Grajales, Pablo Javier |
| 2011 | Evaluación citogenética y de pérdida de la heterocigosidad de la región 22q11.2 en pacientes con el Síndrome de DiGeorge | Gallego García, Germán Andreo; Trujillo Vargas, Claudia Milena; Garcés Samudio, Carlos Guillermo; Muñetón Peña, Carlos Mario; Orrego Arango, Julio César; Franco Restrepo, José Luis |
| 2004 | Fragilidad ósea en el síndrome de hiperinmunoglobulinemia E : SHIE | Sandoval, Rosahyra; Patiño Grajales, Pablo Javier; Montoya Guarin, Carlos Julio; Olivares Gómez, María Margarita; Salgado Vélez, Helì; Franco Restrepo, José Luis |