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Fecha de publicaciónTítuloAutor(es)
2020A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody DeficiencyFranco 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.
2013A Phenotypic Approach for IUIS PID Classification and Diagnosis: Guidelines for Clinicians at the BedsideFranco 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
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.
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