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openAccessfimmu-09-00543.pdf.jpg16-mar-2018Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome RegistryMaccari, María Elena; Abolhassani, Hassan; Aghamohammadi, Asghar; Aiuti, Alessandro; Aleinikova, Olga; Bangs, Catherine; Baris, Safa; Barzaghi, Federica; Baxendale, Helen; Buckland, Matthew; Burns, Siobhan O.; Cancrini, Caterina; Cant, Andrew; Cathébras, Pascal; Cavazzana, Marina; Chandra, Anita; Conti, Francesca; Coulter, Tanya; Devlin, Lisa A.; Edgar, J. David M.; Faust, Saul; Fischer, Alain; García Prat, Marina; Hammarström, Lennart; Heeg, Maximilian; Jolles, Stephen; Karakoc-Aydiner, Elif; Kindle, Gerhard; Kiykim, Ayca; Kumararatne, Dinakantha; Grimbacher, Bodo; Longhurst, Hilary; Mahlaoui, Nizar; Milota, Tomas; Moreira, Fernando; Moshous, Despina; Mukhina, Anna; Neth, Olaf CSIC ORCID; Neven, Benedicte; Nieters, Alexandra; Olbrich, Peter CSIC ORCID CVN; Ozen, Ahmet; Pachlopnik Schmid, Jana; Picard, Capucine; Prader, Seraina; Rae, William; Reichenbach, Janine; Rusch, Stephan; Savic, Sinisa; Scarselli, Alessia; Scheible, Raphael; Sediva, Anna; Sharapova, Svetlana O.; Shcherbina, Anna; Slatter, Mary; Soler-Palacín, Pere; Stanislas, Aurelie; Suárez, Felipe; Tucci, Francesca; Uhlmann, Anne; van Montfrans, Joris; Warnatz, Klaus; Williams, Anthony Peter; Wood, Phil; Kracker, Sven; Condliffe, Alison Mary; Ehl, Stephanartículo
closedAccessaccesoRestringido.pdf.jpgene-2020Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunityJägle, Sabine; Heeg, Maximilian; Grün, Sarah; Rensing-Ehl, Anne; Maccari, María Elena; Klemann, Christian; Jones, Neil; Lehmberg, Kai; Bettoni, Claudia; Warnatz, Klaus; Grimbacher, Bodo; Biebl, Ariane; Schauer, Uwe; Hague, Rosie; Neth, Olaf CSIC ORCID; Mauracher, Andrea; Pachlopnik Schmid, Jana; Fabre, Alexandre; Kostyuchenko, Larysa; Führer, Marita; Lorenz, Myriam Ricarda; Schwarz, Klaus; Rohr, Jan; Ehl, Stephanartículo
closedAccessabr-2023Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndromeLeiding, Jennifer W.; Vogel, Tiphanie P.; Santarlas, Valentine G. J.; Mhaskar, Rahul; Smith, Madison R.; Carisey, Alexandre; Vargas-Hernández, Alexander; Silva-Carmona, Manuel; Heeg, Maximilian; Rensing-Ehl, Anne; Neven, Bénédicte; Hadjadj, Jérôme; Hambleton, Sophie; Ronan Leahy, Timothy; Meesilpavikai, Kornvalee; Cunningham-Rundles, Charlotte; Dutmer, Cullen M.; Sharapova, Svetlana O.; Taskinen, Mervi; Chua, Ignatius; Hague, Rosie; Klemann, Christian; Kostyuchenko, Larysa; Morio, Tomohiro; Thatayatikom, Akaluck; Ozen, Ahmet; Scherbina, Anna; Bauer, Cindy S.; Flanagan, Sarah E.; Gambineri, Eleonora; Giovannini-Chami, Lisa; Heimall, Jennifer; Sullivan, Kathleen E.; Allenspach, Eric; Romberg, Neil; Deane, Sean G.; Prince, Benjamin T.; Rose, Melissa J.; Bohnsack, John; Mousallem, Talal; Jesudas, Rohith; Dos Santos Vilela, Maria Marluce; O'Sullivan, Michael; Pachlopnik Schmid, Jana; Průhová, Štěpánka; Klocperk, Adam; Rees, Matthew; Su, Helen; Bahna, Sami; Baris, Safa; Bartnikas, Lisa M.; Chang Berger, Amy; Briggs, Tracy A.; Brothers, Shannon; Bundy, Vanessa; Chan, Alice Y.; Chandrakasan, Shanmuganathan; Christiansen, Mette; Cole, Theresa; Cook, Matthew C.; Desai, Mukesh M.; Fischer, Ute; Fulcher, David A.; Gallo, Silvanna; Gauthier, Amelie; Gennery, Andrew R.; Gonçalo Marques, José; Gottrand, Frédéric; Grimbacher, Bodo; Grunebaum, Eyal; Haapaniemi, Emma; Hämäläinen, Sari; Heiskanen, Kaarina; Heiskanen-Kosma, Tarja; Hoffman, Hal M.; Gonzalez-Granado, Luis Ignacio; Guerrerio, Anthony L.; Kainulainen, Leena; Kumar, Ashish; Lawrence, Monica G.; Levin, Carina; Martelius, Timi; Neth, Olaf CSIC ORCID; Olbrich, Peter CSIC ORCID CVN; Palma, Alejandro; Patel, Niraj C.; Pozos, Tamara; Preece, Kahn; Lugo Reyes, Saúl Oswaldo; Russell, Mark A.; Schejter, Yael; Seroogy, Christine; Sinclair, Jan; Skevofilax, Effie; Suan, Daniel; Suez, Daniel; Szabolcs, Paul; Velasco, Helena; Warnatz, Klaus; Walkovich, Kelly; Worth, Austen; STAT3 GOF Working Group members; Seppänen, Mikko R. J.; Torgerson, Troy R.; Sogkas, Georgios; Ehl, Stephan; Tangye, Stuart G.; Cooper, Megan A.; Milner, Joshua D.; Forbes Satter, Lisa R.artículo
openAccessviruses-14-01407-v2.pdf.jpg28-jun-2022Sequence-Specific Features of Short Double-Strand, Blunt-End RNAs Have RIG-I- and Type 1 Interferon-Dependent or -Independent Anti-Viral EffectsKannan, Abhilash; Suomalainen, Maarit; Volle, Romain; Bauer, Michael; Amsler, Marco; Trinh, Hung V.; Vavassori, Stefano; Pachlopnik Schmid, Jana; Vilhena, J. G. CSIC ORCID; Marin-González, Alberto; Pérez, Rubén; Franceschini, Andrea; Mering, Christian von; Hemmi, Silvia; Greber, Urs F.artículo
closedAccessaccesoRestringido.pdf.jpgfeb-2022Therapeutic options for CTLA-4 insufficiencyEgg, David; Rump, Ina Caroline; Mitsuiki, Noriko; Rojas-Restrepo, Jessica; Maccari, María Elena; Schwab, Charlotte; Gabrysch, Annemarie; Warnatz, Klaus; Goldacker, Sigune; Patiño, Virginia; Wolff, Daniel; Okada, Satoshi; Hayakawa, Seiichi; Shikama, Yoshiaki; Kanda, Kenji; Imai, Kohsuke; Sotomatsu, Manabu; Kuwashima, Makoto; Kamiya, Takahiro; Morio, Tomohiro; Matsumoto, Kazuaki; Mori, Takeshi; Yoshimoto, Yuri; Dybedal, Ingunn; Kanariou, María; Kucuk, Zeynep Yesim; Chapdelaine, Hugo; Petruzelkova, Lenka; Lorenz, Hanns-Martin; Sullivan, Kathleen E; Heimall, Jennifer; Moutschen, Michel; Litzman, Jiri; Recher, Mike; Albert, Michael H.; Hauck, Fabian; Seneviratne, Suranjith; Pachlopnik Schmid, Jana; Kolios, Antonios; Unglik, Gary; Klemann, Christian; Snapper, Scott; Giulino-Roth, Lisa; Svaton, Michael; Platt, Craig D.; Hambleton, Sophie; Neth, Olaf CSIC ORCID; Gosse, Geraldine; Reinsch, Steffen; Holzinger, Dirk; Kim, Yae-Jean; Bakhtiar, Shahrzad; Atschekzei, Faranaz; Schmidt, Reinhold; Sogkas, Georgios; Chandrakasan, Shanmuganathan; Rae, William; Derfalvi, Beata; Marquart, Hanne Vibeke; Ozen, Ahmet; Kiykim, Ayca; Karakoc-Aydiner, Elif; Králíčková, Pavlína; de Bree, Godelieve; Kiritsi, Dimitra; Seidel, Markus G.; Kobbe, Robin; Dantzer, Jennifer; Alsina, Laia; Armangue, Thais; Lougaris, Vassilios; Agyeman, Philipp; Nyström, Sofía; Buchbinder, David; Arkwright, Peter D.; Grimbacher, Bodoartículo