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Fecha de publicaciónTítuloAutor(es)
2014Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiencyFranco 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
2011Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial diseaseArias Sierra, Andrés Augusto; Bustamante, Jacinta; Vogt, Guillaume; Picard, Capucine; Blancas Galicia, Lizbeth; Prando Andrade, Carolina; Virginia Grant, Audrey; Marchal, Christophe C; Hubeau, Marjorie; Chapgier, Ariane; de Beaucoudrey, Ludovic; Puel, Anne; Feinberg, Jacqueline; Valinetz, Ethan; Jannière, Lucile; Besse, Céline; Boland, Anne; Brisseau, Jean Marie; Blanche, Stéphane; Lortholary, Olivier; Fieschi, Claire; Emile, Jean François; Boisson Dupuis, Stéphanie; Al-Muhsen, Saleh; Woda, Bruce; Newburger, Peter E.; Condino Neto, Antonio; Dinauer, Mary C.; Abel, Laurent; Casanova, Jean Laurent
2012Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial diseaseMoncada Vélez, Marcela; Kong, Xiao Fei; Vogt, Guillaume; Itan, Yuval; Macura Biegun, Anna; Szaflarska, Anna; Kowalczyk, Danuta; Chapgier, Ariane; Abhyankar, Avinash; Furthner, Dieter; Djambas Khayat, Claudia; Okada, Satoshi; Bryant, Vanessa L.; Bogunovic, Dusan; Kreins, Alexandra; Migaud, Melanie; Al-Ajaji, Sulaiman; Al-Muhsen, Saleh; Holland, Steven M.; Abel, Laurent; Picard, Capucine; Chaussabel, Damien; Bustamante, Jacinta; Casanova, Jean-Laurent; Boisson Dupuis, Stephanie
2020Human Inborn Errors of Immunity: 2019 Update on the ClassificationFranco Restrepo, José Luis; Tangye, Stuart G; Al-Herz, Waleed; Bousfiha, Aziz; Chatila, Talal; Cunningham-Rundles, Charlotte; Etzioni, Amos; Holland, Steven M; Klein, Christoph; Morio, Tomohiro; Ochs, Hans D; Oksenhendler, Eric; Picard, Capucine; Puck, Jennifer; Torgerson, Troy R; Casanova, Jean-Laurent; Sullivan, Kathleen E
2020Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert CommitteeFranco Restrepo, José Luis; Tangye, Stuart; Al-Herz, Waleed; Bousfiha, Aziz; Chatila, Talal; Cunningham-Rundles, Charlotte; Etzioni, Amos; Holland, Steven; Klein, Christoph; Morio, Tomohiro; Ochs, Hans D; Oksenhendler, Eric; Picard, Capucine; Puck, Jennifer; Torgerson, Troy R; Casanova, Jean-Laurent; Sullivan, Kathleen E
2015Human TYK2 Deficiency: Mycobacterial and Viral Infections without Hyper-IgE SyndromeMoncada Vélez, Marcela; Kreins, Alexandra Yema; Ciancanelli, Michael; Okada, Satoshi; Kong, Xiao-Fei; Ramírez Alejo, Noé; Sebnem Kilic, Sara; El Baghdadi, Jamila; Nonoyama, Shigeaki; Mahdaviani, Seyed Alireza; Ailal, Fatima; Bousfiha, Aziz; Mansouri, Davood; Nievas, Elma; Ma, Cindy S.; Rao, Geetha; Bernasconi, Andrea; Kuehn, Hye Sun; Niemela, Julie; Stoddard, Jennifer; Deveau, Paul; Cobat, Aurelie; El Azbaoui, Safa; Sabri, Ayoub; Lim, Che Kang; Sundin, Mikael; Avery, Danielle T.; Halwani, Rabih; Grant, Audrey V.; Boisson, Bertrand; Bogunovic, Dusan; Itan, Yuval; Martínez Barricarte, Rubén; Migaud, Melanie; Deswarte, Caroline; Alsina, Laia; Kotlarz, Daniel; Klein, Christoph; Fleckenstein, Ingrid Muller; Fleckenstein, Bernhard; Cormier Daire, Valerie; Rose John, Stefan; Picard, Capucine; Hammarstrom, Lennart; Puel, Anne; Al Muhsen, Saleh; Abel, Laurent; Chaussabel, Damien; Rosenzweig, Sergio D.; Minegishi, Yoshiyuki; Tangye, Stuart G.; Bustamante, Jacinta; Casanova, Jean Laurent; Boisson Dupuis, Stéphanie
2018International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of ImmunityFranco Restrepo, José Luis; Picard, Capucine; Gaspar, Bobby; Al-Herz, Waleed; Bousfiha, Aziz; Casanova, Jean-Laurent; Chatila, Talal; Crow, Yanick J.; Cunningham-Rundles, Charlotte; Etzioni, Amos; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Ochs, Hans D.; Oksenhendler, Eric; Puck, Jennifer; Tang, Mimi L. K.; Tangye, Stuart G.; Torgerson, Troy R.; Sullivan, Kathleen E.
2015The 2015 IUIS Phenotypic Classification for Primary ImmunodeficienciesFranco Restrepo, José Luis; Bousfiha, Aziz; Jeddane, Leïla; Al Herz, Waleed; Ailal, Fatima; Casanova, Jean Laurent; Chatila, Talal; Conley, Mary Ellen; Cunningham Rundles, Charlotte; Etzioni, Amos; Gaspar, H. Bobby; Holland, Steven M.; Klein, Christoph; Nonoyama, Shigeaki; Ochs, Hans D.; Oksenhendler, Eric; Picard, Capucine; Puck, Jennifer M.; Sullivan, Kathleen E.; Tang, Mimi L. K.
2017The 2017 IUIS Phenotypic Classification for Primary ImmunodeficienciesBousfiha, Aziz; Jeddane, Leïla; Picard, Capucine; Ailal, Fatima; Gaspar, H. Bobby; Franco Restrepo, José Luis
2021The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS CommitteeFranco Restrepo, José Luis; Tangye, Stuart G; Al-Herz, Waleed; Bousfiha, Aziz; Cunningham Rundles, Charlotte; Holland, Steven M; Klein, Christoph; Morio, Tomohiro; Oksenhendler, Eric; Picard, Capucine; Puel, Anne; Puck, Jennifer; Seppänen, Mikko R J; Somech, Raz; Su, Helen C; Sullivan, Kathleen E; Torgerson, Troy R; Meyts, Isabelle