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Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study De Felipe, Beatriz; Delgado-Pecellin, Carmen; Lopez-Lobato, Mercedes; Olbrich, Peter; Blanco-Lobo, Pilar; Marquez-Fernandez, Josefina; Salamanca, Carmen; Mendoza, Beatriz; Castro-Serrano, Rocio; Duque, Cristina; Moreno-Prieto, Mariana; Madruga-Garrido, Marcos; Lucena, Jose M.; Fernandez, Raquel M.; Ruiz-Camacho, Maria; Varona, Alberto; Neth, Olaf Share Save
A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion Ochoa, Sebastian; Hsu, Amy P.; Oler, Andrew J.; Kumar, Dhaneshwar; Chauss, Daniel; van Hamburg, Jan Piet; van Laar, Gustaaf G.; Oikonomou, Vasileios; Ganesan, Sundar; Ferre, Elise M. N.; Schmitt, Monica M.; Dimaggio, Tom; Barber, Princess; Constantine, Gregory M.; Rosen, Lindsey B.; Auwaerter, Paul G.; Gandhi, Bhumika; Miller, Jennifer L.; Eisenberg, Rachel; Rubinstein, Arye; Schussler, Edith; Balliu, Erjola; Shashi, Vandana; Neth, Olaf; Olbrich, Peter; Le, Kim My; Mamia, Nanni; Laakso, Saila; Nevalainen, Pasi I.; Groenholm, Juha; Seppaenen, Mikko R. J.; Boon, Louis; Uzel, Gulbu; Franco, Luis M.; Heller, Theo; Winer, Karen K.; Ghosh, Rajarshi; Seifert, Bryce A.; Walkiewicz, Magdalena; Notarangelo, Luigi D.; Zhou, Qing; Askentijevich, Ivona; Gahl, William; Dalgard, Cliffton L.; Perera, Lalith; Afzali, Behdad; Tas, Sander W.; Holland, Steven M.; Lionakis, Michail S. Share Save
Deficiency in ELF4, X-Linked: a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease Olyha, Sam J.; O'Connor, Shannon K.; Kribis, Marat; Bucklin, Molly L.; Kumar, Dinesh Babu Uthaya; Tyler, Paul M.; Alam, Faiad; Jones, Kate M.; Sheikha, Hassan; Konnikova, Liza; Lakhani, Saquib A.; Montgomery, Ruth R.; Catanzaro, Jason; Du, Hongqiang; Digiacomo, Daniel V.; Rothermel, Holly; Moran, Christopher J.; Fiedler, Karoline; Warner, Neil; Hoppenreijs, Esther P. A. H.; van der Made, Caspar I.; Hoischen, Alexander; Olbrich, Peter; Neth, Olaf; Rodriguez-Martinez, Alejandro; Lucena Soto, Jose Manuel; van Rossum, Annemarie M. C.; Dalm, Virgil A. S. H.; Muise, Aleixo M.; Lucas, Carrie L. Share Save
Non-apoptotic FAS signaling controls mTOR activation and extrafollicular maturation in human B cells Staniek, Julian; Kalina, Tomas; Andrieux, Geoffroy; Boerries, Melanie; Janowska, Iga; Fuentes, Manuel; Diez, Paula; Bakardjieva, Marina; Stancikova, Jitka; Raabe, Jan; Neumann, Julika; Schwenk, Sabine; Arpesella, Leonardo; Stuchly, Jan; Benes, Vladimir; Garcia Valiente, Rodrigo; Fernandez Garcia, Jonatan; Carsetti, Rita; Piano Mortari, Eva; Catala, Albert; de la Calle, Oscar; Sogkas, Georgios; Neven, Benedicte; Rieux-Laucat, Frederic; Magerus, Aude; Neth, Olaf; Olbrich, Peter; Voll, Reinhard E.; Alsina, Laia; Allende, Luis M.; Gonzalez-Granado, Luis I.; Boehler, Chiara; Thiel, Jens; Venhoff, Nils; Lorenzetti, Raquel; Warnatz, Klaus; Unger, Susanne; Seidl, Maximilian; Mielenz, Dirk; Schneider, Pascal; Ehl, Stephan; Rensing-Ehl, Anne; Smulski, Cristian Roberto; Rizzi, Marta Share Save
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study Fischer, Marco; Olbrich, Peter; Hadjadj, Jerome; Aumann, Volker; Bakhtiar, Shahrzad; Barlogis, Vincent; von Bismarck, Philipp; Bloomfield, Marketa; Booth, Claire; Buddingh, Emmeline P.; Cagdas, Deniz; Castelle, Martin; Chan, Alice Y.; Chandrakasan, Shanmuganathan; Chetty, Kritika; Cougoul, Pierre; Crickx, Etienne; Dara, Jasmeen; Deya-Martinez, Angela; Farmand, Susan; Formankova, Renata; Gennery, Andrew R.; Gonzalez-Granado, Luis Ignacio; Hagin, David; Hanitsch, Leif Gunnar; Hanzlikova, Jana; Hauck, Fabian; Ivorra-Cortes, Jose; Kisand, Kai; Kiykim, Ayca; Koerholz, Julia; Leahy, Timothy Ronan; van Montfrans, Joris; Nademi, Zohreh; Nelken, Brigitte; Parikh, Suhag; Plado, Silvi; Ramakers, Jan; Redlich, Antje; Rieux-Laucat, Frederic; Riviere, Jacques G.; Rodina, Yulia; Roxo Junior, Persio; Salou, Sarah; Schuetz, Catharina; Shcherbina, Anna; Slatter, Mary A.; Touzot, Fabien; Unal, Ekrem; Lankester, Arjan C.; Burns, Siobhan; Seppanen, Mikko R. J.; Neth, Olaf; Albert, Michael H.; Ehl, Stephan; Neven, Benedicte; Speckmann, Carsten Share Save
Activated phosphoinositide 3-kinase d syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity Maccari, Maria Elena; Wolkewitz, Martin; Schwab, Charlotte; Lorenzini, Tiziana; Leiding, Jennifer W.; Aladjdi, Nathalie; Abolhassani, Hassan; Abou-Chahla, Wadih; Aiuti, Alessandro; Azarnoush, Saba; Baris, Safa; Barlogis, Vincent; Barzaghi, Federica; Baumann, Ulrich; Bloomfield, Marketa; Bohynikova, Nadezda; Bodet, Damien; Boutboul, David; Bucciol, Giorgia; Buckland, MattheW S.; Burns, Siobhan O.; Cancrini, Caterina; Cath, Pascal; Cavazzana, Marina; Cheminant, Morgane; Chinello, Matteo; Ciznar, Peter; Coulter, Tanya I.; D'Aveni, Maud; Ekwall, Olov; Eric, Zelimir; Eren, Efrem; Fasth, Anders; Frange, Pierre; Fournier, Benjamin; Garcia-Prat, Marina; Gardembas, Martine; Geier, Christoph; Ghosh, Sujal; Goda, Vera; Hammarstrom, Lennar; Hauck, Fabian; Heeg, Maximilian; Heropolitanska-Pliszka, Edyta; Hilfanova, Anna; Jolles, Stephen; Karakoc-Aydiner, Elif; Kindle, Gerhard R.; Kiykim, Ayca; Klemann, Christian; Koletsi, Patra; Koltan, Sylwia; Kondratenko, Irina; Korholz, Julia; Kruger, Renate; Jeziorski, Eric; Levy, Romain; Le Guenno, Guillaume; Lefevre, Guillaume; Lougaris, Vassilios; Marzollo, Antonio; Mahlaoui, Nizar; Malphettes, Marion; Meinhardt, Andrea; Merlin, Etienne; Meyts, Isabelle; Milota, Tomas; Moreira, Fernando; Moshous, Despina; Mukhina, Anna; Neth, Olaf; Neubert, Jennifer; Neven, Benedicte; Nieters, Alexandra; Nove-Josserand, Raphaele; Oksenhendler, Eric; Ozen, Ahmet; Olbrich, Peter; Perlat, Antoinette; Pac, Malgorzata; Schmid, Jana Pachlopnik; Pacillo, Lucia; Parra-Martinez, Alba; Paschenko, Olga; Pellier, Isabelle; Sefer, Asena Pinar; Plebani, Alessandro; Plantaz, Dominique; Prader, Seraina; Raffray, Loic; Ritterbusch, Henrike; Riviere, Jacques G.; Rivalta, Beatrice; Rusch, Stephan; Sakovich, Inga; Savic, Sinisa; Scheible, Raphael; Schleinitz, Nicolas; Schuetz, Catharina; Schulz, Ansgar; Sediva, Anna; Semeraro, Michaela; Sharapova, Svetlana O.; Shcherbina, Anna; Slatter, Mary A.; Sogkas, Georgios; Soler-Palacin, Pere; Speckmann, Carsten; Stephan, Jean-Louis; Suarez, Felipe; Tommasini, Alberto; Truck, Johannes; Uhlmann, Annette; van Aerde, Koen J.; van Montfrans, Joris; von Bernuth, Horst; Warnatz, Klaus; Williams, Tony; Worth, Austen J. J.; Ip, Winnie; Picard, Capucine; Catherinot, Emilie; Nademi, Zohreh; Grimbacher, Bodo; Satter, Lisa R. Forbes; Kracker, Sven; Chandra, Anita; Condliffe, Alison M.; Ehl, Stephan Share Save
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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome Leiding, Jennifer W.; Vogel, Tiphanie P.; Santarlas, Valentine G. J.; Mhaskar, Rahul; Smith, Madison R.; Carisey, Alexandre; Vargas-Hernandez, Alexander; Silva-Carmona, Manuel; Heeg, Maximilian; Rensing-Ehl, Anne; Neven, Benedicte; Hadjadj, Jerome; Hambleton, Sophie; Leahy, Timothy Ronan; 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, Nei; Deane, Sean G.; Prince, Benjamin T.; Rose, Melissa J.; Bohnsack, John; Mousallem, Talal; Jesudas, Rohith; Vilela, Maria Marluce Dos Santos; O'Sullivan, Michael; Schmid, Jana Pachlopnik; Pruhova, Stepanka; Klocperk, Adam; Rees, Matthew; Su, Helen; Bahna, Sami; Baris, Saf; Bartnikas, Lisa M.; Berger, Amy Chang; 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.; Marques, Jose Goncalo; Gottrand, Frederic; Grimbacher, Bodo; Grunebaum, Eyal; Haapaniemi, Emma; Hamalainen, 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; Olbrich, Peter; Palma, Alejandro; Patel, Niraj C.; Pozos, Tamara; Preece, Kahn; Lugo Reyes, Saul 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; Seppanen, Mikko R. J.; Torgerson, Troy R.; Sogkas, Georgios; Ehl, Stephan; Tangye, Stuart G.; Cooper, Megan A.; Milner, Joshua D.; Satter, Lisa R. Forbes Share Save
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SARS-CoV-2 Seroprevalence Study in Pediatric Patients and Health Care Workers Using Multiplex Antibody Immunoassays Prados de la Torre, Esther; Obando, Ignacio; Vidal, Marta; de Felipe, Beatriz; Aguilar, Ruth; Izquierdo, Luis; Carolis, Carlo; Olbrich, Peter; Capilla-Miranda, Ana; Serra, Pau; Santamaria, Pere; Blanco-Lobo, Pilar; Moncunill, Gemma; Rodriguez-Ortega, Manuel J.; Dobano, Carlota Share Save
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Ex vivo effect of JAK inhibition on JAK-STAT1 pathway hyperactivation in patients with dominant-negative STAT3 mutations Blanco Lobo, Pilar; Guisado-Hernandez, Paloma; Villaoslada, Isabel; de Felipe, Beatriz; Carreras, Carmen; Rodriguez, Hector; Carazo-Gallego, Begona; Mendez-Echevarria, Ana; Manuel Lucena, Jose; Ortiz Aljaro, Pilar; Jose Castro, Maria; Francisco Noguera-Ucles, Jose; Milner, Joshua D.; McCann, Katelyn; Zimmerman, Ofer; Freeman, Alexandra F.; Lionakis, Michail S.; Holland, Steven M.; Neth, Olaf; Olbrich, Peter Share Save
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Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature Deya-Martinez, Angela; Riviere, Jaques G.; Roxo-Junior, Persio; Ramakers, Jan; Bloomfield, Marketa; Guisado Hernandez, Paloma; Blanco Lobo, Pilar; Abu Jamra, Soraya Regina; Esteve-Sole, Ana; Kanderova, Veronika; Garcia-Garcia, Ana; Lopez-Corbeto, Mireia; Pomar, Natalia Martinez; Martin-Nalda, Andrea; Alsina, Laia; Neth, Olaf; Olbrich, Peter Share Save
Response to Comments on Aberrant type 1 immunity drives susceptibility to mucosal fungal infections Break, Timothy J.; Oikonomou, Vasileios; Dutzan, Nicolas; Desai, Jigar V.; Swidergall, Marc; Freiwald, Tilo; Chauss, Daniel; Harrison, Oliver J.; Alejo, Julie; Williams, Drake W.; Pittaluga, Stefania; Lee, Chyi-Chia R.; Bouladoux, Nicolas; Swamydas, Muthulekha; Hoffman, Kevin W.; Greenwell-Wild, Teresa; Bruno, Vincent M.; Rosen, Lindsey B.; Lwin, Wint; Renteria, Andy; Pontejo, Sergio M.; Shannon, John P.; Myles, Ian A.; Olbrich, Peter; Ferre, Elise M. N.; Schmitt, Monica; Martin, Daniel; Barber, Daniel L.; Solis, Norma V.; Notarangelo, Luigi D.; Serreze, David V.; Matsumoto, Mitsuru; Hickman, Heather D.; Murphy, Philip M.; Anderson, Mark S.; Lim, Jean K.; Holland, Steven M.; Filler, Scott G.; Afzali, Behdad; Belkaid, Yasmine; Moutsopoulos, Niki M.; Lionakis, Michail S. Share Save
Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management Lopez-Nevado, Marta; Gonzalez-Granado, Luis, I; Ruiz-Garcia, Raquel; Pleguezuelo, Daniel; Cabrera-Marante, Oscar; Salmon, Nerea; Blanco-Lobo, Pilar; Dominguez-Pinilla, Nerea; Rodriguez-Pena, Rebeca; Sebastian, Elena; Cruz-Rojo, Jaime; Olbrich, Peter; Ruiz-Contreras, Jesus; Paz-Artal, Estela; Neth, Olaf; Allende, Luis M. Share Save
Biallelic TRAF3IP2 variants causing chronic mucocutaneous candidiasis in a child harboring a STAT1 variant Blanco Lobo, Pilar; Lei, Wei-Te; Pelham, Simon J.; Guisado Hernandez, Paloma; Villaoslada, Isabel; de Felipe, Beatriz; Lucena, Jose Manuel; Casanova, Jean-Laurent; Olbrich, Peter; Puel, Anne; Neth, Olaf Share Save
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