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Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients

Title: Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients
Authors: Kindle, Gerhard; Alligon, Mickaël; Albert, Michael H; Buckland, Matthew; Edgar, J David; Gathmann, Benjamin; Ghosh, Sujal; Gkantaras, Antonios; Nieters, Alexandra; Pignata, Claudio; Robinson, Peter N; Rusch, Stephan; Schuetz, Catharina; Sharapova, Svetlana; Shillitoe, Benjamin; Candotti, Fabio; Cant, Andrew J; Casanova, Jean-Laurent; Etzioni, Amos; Fischer, Alain; Meyts, Isabelle; Notarangelo, Luigi D; Pergent, Martine; Smith, CI Edvard; Elaziz, Dalia Abd; Abdelkader, Sohilla Lofty M; Abitbol, Avigaelle; Abolhassani, Hassan; Abrahim, Lalash; Abuzakouk, Mohamed; Moussouni, Nabila Achir; Afonso, Veronica; Agyeman, Philipp; Ahlmann, Martina; Aiuti, Alessandro; Akl, Abla; Aksu, Güzide; Albers, Kim; Alecsandru, Meda Diana; Aleinikova, Olga; Aleshkevich, Svetlana; Allende, Luis; Allwood, Zoe; de Lara Laia Alsina, Manrique; Ambrosch-Barsoumian, Daniela; Ameshofer, Lisa; Amour, Kenza; Anadol, Evrim; Ananthachagaran, Ariharan; Andriamanga, Chantal; Andris, Julia; Andritschke, Karin; Angelini, Federica; Ankermann, Tobias; Apel, Katrin; Arami, Siamak; Ardeniz, Ömür; Arkwright, Peter; Arnold, Karina; Ascherl, Rudolf; Assam, Najla; Assia-Batzir, Nurit; Atschekzei, Faranaz; Aumann, Sybille; Aumann, Volker; Aurivillius, Magnus; Ausserer, Bernd; Avcin, Tadej; Aydemir, Sezin; Aygören-Pürsün, Emel; Deniz, Cagdas Ayvaz; Azzari, Chiara; Bach, Perrine; Bachmann, Sophie; Bader, Peter; Bakhtiar, Shahrzad; Bancé, Renate; Bangs, Catherine; Barfusz, Katerina; Baris, Safa; Isil, B Barlan; Bartsch, Michaela; Baumann, Helge; Baumann, Ulrich; Baumeister, Veronika; Baxendale, Helen; Bazen, Suzanne; Beaurain, Beatrice; Beauté, Julien; Bechar-Makhloufi, Mounia; Beck, Norbert; Becker, Brigitta; Becker, Christian; Behrends, Uta; Beider, Renata; Beier, Rita; Belkacem, Amel; Belke, Luisa; Bellert, Sven; Belohradsky, Bernd H; Ben Slama, Lilia; Ben-Bouzid, Aouatef; Benoît, Vincent; Berdous-Sahed, Thamila; Bergils, Jan; Berglöf, Anna; Bergman, Peter; Bernat-Sitarz, Katarzyna; Bernatoniene, Jolanta; Bernatowska, Ewa; Bernbeck, Benedikt; Bethune, Claire; Beuckmann, Kai; Bhole, Malini; Biegner, Anika-Kerstin; Bielack, Stefan; Bienemann, Kirsten; Bigl, Arndt; Bigorgne, Amélie; Bijl, Marc; Binder, Nadine; Bitzenhofer-Grüber, Michaela; Rohner, Geraldine Blanchard; Blank, Dagmar; Blattmann, Claudia; Blau, Julia; Blaziene, Audra; Blazina, Stefan; Blume, Roswitha; Boardman, Barbara; Bode, Sebastian; Boelens, Jaap-Jan; Boesecke, Christoph; Bogaert, Delfien; Bogner, Johannes; Bohynikova, Nadezda; Booth, Claire; Bordon, Victoria; Borkhardt, Arndt; Börries, Melanie; Borte, Michael; Borte, Stephan; Bossaller, Lukas; Bossard, Madeleine; Botros, Jeannet; Boucherit, Soraya; Boutros, Jeannette; Boyarchuk, Oksana; Boyman, Onur; Boztug, Kaan; Braschler, Thomas; Bravo, Sophie; Bredius, Robbert; Bright, Philip; Brito de Azevedo Amaral, Carolina; Brodszki, Nicholas; Brodt, Grit; Brolund, Allan; Brosselin, Pauline; Brummel, Bastian; Brun-Schmid, Sonja; Brunner, Jürgen; Bruns, Roswitha; Buchta, Christina; Buck, Dietke; Bücker, Aileen; Bührlen, Martina; Burdach, Stefan; Burns, Siobhan; Burton, Janet; Caminal, Luis; Cancrini, Caterina; Canessa, Clementina; Cantoni, Nathan; Capilna, Brindusa; Caracseghi, Fabiola; Caragol, Isabel; Carbone, Javier; Carrabba, Maria; Chamberlain, Latanya; Chandra, Anita; Chantrain, Christophe; Chapel, Helen; Chassot, Julie; Chee, Ronnie; Chinello, Matteo; Chopra, Charu; Chovancova, Zita; Christmann, Martin; Chrzanowska, Krystyna; Ciznar, Peter; Claes, Karlien; Classen, Carl Friedrich; Classen, Martin; Cochino, Alexis-Virgil; Condliffe, Alison M; Corbacioglu, Selim; Cordeiro, Ana Isabel; Wynar, Donatienne Cordier; Core, Claire; Costes, Laurence; Coulter, Tanya; Courteille, Virginie; Cristina, Maria; Cucuruz, Maria; Dabrowska, Leonik Nel; Dähling, Mandy; Daly, Mary Louise; Daniel, Claudia-Sabrina; Danieli, Maria Giovanna; Darroch, James; Davies, Graham; de Baets, Frans; De Boeck, Christiane; De Gracia Roldan, Javier; de Nadai, Narimene; de Schutter, Iris; De Vergnes, Nathalie; de Vries, Esther; de Witte, Josine; Debert, Theo; Defila, Corina; Deimel, Judith; Delaplace, Diane; Dellepiane, Rosa Maria; Dellert, Nelli; Delliera, Laura; Delor, Anita; Demel, Ulrike; Dempster, John; Os, MM den; Dengg, Rosmarie; Desisa, Sora Asfaw; Desta, Alexandra; Detkova, Drahomira; Dewerchin, Maite; Crimi, Romina Dieli; Dilloo, Dagmar; Dimitriou, Florentia; Dinser, Jasmin; Dipani, Nabila; Dirks, Johannes; Dittrich, Anna-Maria; Djermane, Lylia; Dogru, Yagmur; Esin, Figen Dogu; Dombrowski, Angelika; Döring, Michaela; Drabe, Camilla Heldbjerg; Drerup, Susann; Drexel, Barbara; Driessen, GJA; Dückers, Gregor; Dudoit, Yasmine; Duppenthaler, Andrea; Ebetsberger-Dachs, Georg; Ecser, Mate Barnabas; Eekman, Maartje; Ehrat, Rosanna; Eisl, Eva; Ekwall, Olov; El Hawary, Rabab; El-Helou, Sabine M; El-Marsafy, Aisha; Elbe, Sarina; Elcombe, Suzanne; Eldash, Alia; Radwa Salah Eldeen, Youssif Alkady; Ellerbroek, PM; Elling, Roland; Elliott, Jane; Engelhardt, Angelika; Ernst, Diana; Ersoy, Fügen; Esper, Stefanie; Esteves, Isabel; Exley, Andrew; Faber, Martin; Fabio, Giovanna; Fahrni, Gaby; Faletti, Laura Eva; Farber, Claire-Michele; Neves, João Farela; Faria, Emilia; Farkas, Henriette; Farmaki, Evangelia; Faßhauer, Maria; Fasth, Anders; Fätkenheuer, Gerd; Faustmann, Stefanie; Fecker, Gisela; Feighery, Conleth; Feiterna-Sperling, Cornelia; Fernandez-Cruz, Perez Eduardo; Concalo, Cordeiro Ferreira; Ferster, Alice; Feuchtinger, Tobias; Feyen, Oliver; Finke, Daniela; Fitter, Sigrid; Flaschberger, Stefan; Fleckenstein, Lucia; Föll, Dirk; Fontana, Adriano; Forino, Concetta; Förster-Waldl, Elisabeth; Franchet, Nora; Freitag, Dagmar; Frey, Urs P; Friedel, Elisabeth; Friedrich, Wilhelm; Frisch, Barbara; Frischknecht, Lukas; Fritzemeyer, Stephanie; Gagro, Alenka; Gahr, Manfred; Gambineri, Eleonora; Gamper, Agnes; Gams, Franziska; Ganzow, Astrid; Garcelon, Nicolas; Garcez, Tomaz; Prat, Marina Garcia; Gardulf, Ann; Garibay, Janine; Garwer, Birgit; Gathmann, Jonathan; Gebauer, Corinna; Geberzahn, Linda; Geikowski, Tilman; Geisen, Ulf; Gemander, Christiane; Gennery, Andrew R; Gerisch, Marie; Gernert, Michael; Gerrer, Katrin; Gerschmann, Stev; Giannini, Carolin; Herrera, Juana Gil; Girndt, Matthias; Girrbach, Ramona; Girschick, Hermann; Gkougkourelas, Ioannis; Gładysz, Dominika; Gnodtke, Elisabeth; Goda, Vera; Goddard, Sarah; Goebel, Daniela; Goffard, Jean-Christophe; Goldacker, Sigune; Gollowitsch, Eva Maria; Gomes, Manuella; Gompels, Mark; González, Míriam; Gonzalez Granado, Luis Ignacio; Gordins, Pavels; Gößling, Katharina; Göschl, Lisa; Gossens, Lucy; Gowin, Ewelina; Graafen, Lea; Graca, Leo; Gradauskiene (Sitkauskiene), Brigita; Graf, Dagmar; Graf, Norbert; Grange, Elliot; Grashoff, H Anne; Greil, Johann; Grigoriadou, Sofia; Gronlund, Helen; Groß-Wieltsch, Ute; Guerra, Teresa; Guevara-Hoyer, Kissy; Mor, Seny Gueye; Guibert, Noemie; Gülnur, Birgit; Güngör, Tayfun; Guseva, Marina; Guzman, David; Haag, Marcel; Haase, Gabriele; Haenicke, Henriette; Haerynck, Filomeen; Hafsa, Ines; Hagin, David; Hallek, Michael; Hancioglu, Gonca; Handgretinger, Rupert; Hanitsch, Leif G; Hansen, Susanne; Hariyan, Tetyana; Harrer, Thomas; Hassunah, Pia; Hatzistilianou, Maria; Hauck, Fabian; Hauser, Thomas; Haverkamp, Margje H; Hayman, Grant; Heath, Paul; Hedrich, Christian; Heeg, Maximilian; Heike, Michael; Heimbrodt, Martin; Heine, Sabine; Heininger, Ulrich; Heinrich, Christian; Heinz, Valerie; Heitger, Andreas; Helbert, Matthew; Helbling, Arthur; Hellige, Antje; Hempel, Julya; Henderson, Karen; Henes, Jörg; Henneke, Philipp; Hennig, Christian; Henrichs, Karin; Herbst, Martin; Hermann, Walter; Hernandez, Manuel; Hernández, Anja; Heropolitanska, Edyta; Herriot, Richard; Herrmann, Friedrich; Herwadkar, Archana; Hess, Christoph; Hess, Ursula; Hesse, Sebastian; Higgins, Sonja; Hilfanova, Anna; Hilpert, Sophie; Hintze, Chantal; Hlaváčková, Eva; Hodl, Isabel; Hodzic, Adna; Hoernes, Miriam; Hoffmann, Christina; Holbro, Andreas; Höllinger, Christiane; Holtsch, Lisa; Holzer, Ursula; Holzinger, Dirk; Hönig, Manfred; Hönscheid, Andrea; Horn, Julia; Horneff, Gerd; Hoyoux, Claire; Hristova, Nataliya; Hübel, Kai; Hübner, Angela; Huemer, Christian; Huissoon, Aarnoud; Hülsmann, Brigitte; Hundsdörfer, Patrick; Huppertz, Hans-Iko; Huß, Kristina; Hussain, Sadia; Husson, Julien; Hüttner-Foehlisch, Tanja; Ijspeert, Hanna; Ikinciogullari, Aydan; İlknur, Kökçü; Irga, Ninela; Jablonka, Alexandra; Jahnz-Rozyk, Karina; Jakob, Marcus; Jakoby, Donate; Jandus, Peter; Jansson, Annette; Jaquet, Melanie; Jardefors, Helene; Jargulinska, Edyta; Jauk, Barbara; Jesenak, Milos; Jilka, Katharina; Jolles, Stephen; Jones, Alison; Jones, Regina; Jonkman-Berk, Birgit; Jönsson, Göran; Joyce, Hilary J; Juliana, Pricillia; Kabesch, Michael; Kager, Leo; Kahlert, Christian; Kaiser-Labusch, Petra; Kakkas, Ioannis; Kamitz, Dirk; Kanariou, Maria; Kanz, Lothar; Karakoc-Aydiner, Elif; Karanovic, Boris; Kartal-Kaess, Mutlu; Käser, Elisabeth; Katzenstein, Terese L; Kayserova, Hana; Kelleher, Peter; Kerre, Tessa; Kilic, Sara Sebnem; Kirchner, Martina; Kiwit, Simone; Kiykim, Ayca; Klasen, Jessica; Klaudel-Dreszler, Maja; Klein, Ariane; Klein, Christoph; Klein-Franke, Andreas; Kleine, Ilona; Kleinert, Stefan; Klemann, Christian; Klima, Marion; Kobbe, Robin; Kocacik Uygun, Dilara Fatma; Koch, Melanie; Kochler, Yvonne; Kohistani, Naschla; Kojic, Marina; Kolios, Antonio; Kölsch, Uwe; Koltan, Sylwia; Kondratenko, Irina; Königs, Christoph; Konoplyannikova, Julia; Kopac, Peter; Kopp, Jana; Körholz, Dieter; Körholz, Julia; Korte, Pauline; Kostyuchenko, Larysa; Kötter, Ina; Kracker, Sven; Králícková, Pavlina; Kramm, Christof; Kramme, Philipp; Krausz, Máté; Kreuz, Wolfhart; Kriván, Gergely; Kropshofer, Gabriele; Krüger, Renate; Krystufkova, Olga; Ktistaki, Maria; Kühl, Jörn-Sven; Kühn, Alexander; Kuijpers, Taco W; Kuis, Wietse; Kullmann, Silke; Kulozik, Andreas; Kumararatne, Dinakantha; Kümmler, Ria; Kündgen, Andrea; Kurenko – Deptuch, Magdalena; Paula, Cosima Kuss; Kütükcüler, Necil; Lafoix-Mignot, Cécile; Lamers, Beate; Lanbeck, Peter; Landais, Paul; Landwehr-Kenzel, Sybille; Langemeyer, Vanessa; Langer, Thorsten; Lankisch, Petra; Lanz, Nadia; de Lara, Manrique; Lara-Villacanas, Eusebia; Laubenthal, Lisa; Laws, Hans-Jürgen; Le Mignot, Loic; Leahy, Ronan; Lee, Jae-Yun; Lehmann, Andrea; Lehmberg, Kai; Lehner, Patricia; Leibfrit, Hans; Leistner, Leoni; Lesch, Petra; Leutner, Simon; Liatsis, Manolis; Véghová, Linda Libai; Liebel, Johanna; Liese, Johannes G; Linauskiene, Kotryna; Linde, Richard; Linßner, Martina; Lippert, Conrad Ferdinand; Litzman, Jiri; Llobet, Pilar; Lo, Babacar; Lodin, Tariq; Lokaj, Jindrich; Longhino, David; Longhurst, Hilary; Lopes da Silva, Susana; Lorenzen, Catharina; Lougaris, Vassilios; Löw, Doris; Lubatschofski, Annelie; Lucas, Mary; Lutz-Wiegers, Verena; Maaß, Sabine; Maccari, Maria Elena; Macura-Biegun, Anna; Maerz, Vanessa; Maggina, Paraskevi; Mahrenholz, Hannah; Maier, Sarah; Malfroot, Anne; Malinauskiene, Laura; Mannhardt-Laakmann, Wilma; Manson, Ania; Mantkowski, Felicia; Manzey, Petra; Marasco, Carolina; Marcus-Mandelblit, Nufar; Marg, Wolfgang; Markelj, Gasper; Marodi, Laszlo; Marques, José Goncalo; Marques, Laura; Marschall, Karin; Martínez, Natalia; Martinez de la Ossa Saenz-Lopez, Rafael; Martinez-Saguer, Inmaculada; Martire, Baldassarre; Marzollo, Antonio; Masekela, Refiloe; Masjosthusmann, Katja; Masmas, Tania Nicole; Matamoros, Nuria; Mattern, Jutta; Mau-Asam, Pearl; McDermott, Elizabeth; McIntosh, Nichole; Meglic, Karmen Mesko; Meijer, Ruben; Meinhardt, Andrea; Meshaal, Safa; Messaoud, Yasmina; Meyer, Björn; Meyer-Olson, Dirk; Micol, Romain; Micoloc, Bozena; Mielke, Gudrun; Milito, Cinzia; Milota, Tomas; Misbah, Siraj; Mohr, Michael; Mohrmann, Karina; Moin, Mostafa; Molinos, Luis; Möller, Jana; Möller-Nehring, Sarah; Morbach, Henner; Moschese, Viviana; Moser, Olga; Moshous, Despina; Motkowski, Radoslaw; Motwani, Jayashree; Galal, Nermeen Mouftah; Müglich, Carmen; Mukhina, Anna; Muller, Eva; Müller, Christiane; Müller, Gabriele; Müller, Hedi; Müller, Ingo; Müller, Thomas; Müller, Zoe; Müller-Ladner, Ulf; Müller-Stöver, Sarah; Münstermann, Esther; Garrell, Núria Murtra; Muschaweck, Moritz; Mutert, Miriam; Nademi, Zohreh; Naik, Paru; Näke, Andrea; Nalda, Andrea Martin; Nasrullayeva, Gulnara; Naumann-Bartsch, Nora; Nemitz, Verena; Neth, Olaf; Neubauer, Andreas; Neubert, Jennifer; Neumann, Carla; Niehues, Tim; Niemuth, Mara; Nieuwhof, Chris; Nolkemper, Daniela; Noorani, Sadia; Noorlander, Budde Adya; Notheis, Gundula; Nowatsh, Sanam Amelie; Obenga, Gaelle; Ocak, Suheyla; Oker, Mehmet; Olbrich, Peter; Olipra, Anna; Omran, Heymut; Oommen, Prasad; Orosova, Jaroslava; Oskarsdottir, Solveig; Özsahin, Hülya; Pac, Malgorzata; Schmid, Jana Pachlopnik; Pandolfi, Franco; Papadopoulou-Alataki, Efimia; Papatriantafillou-Schmieder, Anna; Parra-Martinez, Alba; Paschenko, Olga; Pašić, Srdjan; Pasnik, Jarek; Patel, Smita; Pavlík, Martin; Artal, Estela Paz; Peeters, Anouk; Pereira da Silva, Sara Branco; Perez-Becker, Ruy; Perlhagen, Markus; Peter, Hans-Hartmut; Pfreundschuh, Michael; Philippet, Pierre; Picard, Capucine; Pietrucha, Barbara; Pietzsch, Leonora; Gibert, Monica Piquer; Pirolt, Kerstin; Plebani, Alessandro; Pleguezuelo, Daniel E; Pollok, Katrin; Pommerening, Helena; Popihn, Daniela; Poplonek, Aleksandra; Popp, Marina; Porta, Fulvio; Portegys, Jan; Posfay-Barbe, Klara; Potjewijd, Judith; Poulheim, Sebastian; Prader, Seraina; Prämassing-Scherzer, Petra; Prelog, Martina; Prevot, Johan; Price, Arthur; Price, Timothy; Proesmans, Marijke; Provot, Johan; Quinti, Isabella; Raab, Anna; Rack, Anita; Raffac, Stefan; Oviedo, Eduardo Ramos; Randrianomenjanahary, Philippe; Ranohavimparany, Anja; Raptaki, Maria; Rashidzadeh, Roonaka; Rathwallner, Margit; Reda, Shereen; Redouane, Nahida; Regateiro, Frederico S; Reichenbach, Janine; Reimers, Bianca; Reinhardt, Cornelia; Reinhardt, Dirk; Reinprecht, Anne; Reiß, Tamara; Reisli, Ismail; Renner, Eleonore; Rezaei, Nima; Richter, Alex; Richter, Darko; Rieber, Nikolaus Peter; Rieckehr, Nadja; Riedel, Marion; Riescher, Heidi; Rischewski, Johannes; Ristl, Nicole; Ritterbusch, Henrike; Ritz, Tanja; Rivier, Francois; Rockstroh, Jürgen K; Roesler, Joachim; Rofiah, Himatur; Rogerson, Elizabeth; Rolfes, Elisabeth; Roller, Beate; Romanyshyn, Yaryna; Rondelli, Roberto; Roosens, Fien; Rösen-Wolff, Angela; Rösler, Valentina; Roth, Johannes; Rothoeft, Tobias; Roubertie, Agathe; Rübsam, Gesa; Rutgers, Abraham; Ryan, Paul; Sach, Gudrun; Sadeghi, Kambis; Sahrbacher, Ulrike; Saidi, Angelika; Tezcan, Özden Sanal; Sanchez-Ramon, Silvia; Santos, Juan Luis; Sargur, Ravishankar; Savchak, Ihor; Savic, Sinisa; Schaaf, Bernhard; Schaefer, Marzena; Schäfe, Christina; Scharbatke, Eva; Schatorje, Ellen; Schauer, Uwe; Scheibenbogen, Carmen; Scheible, Raphael; Scheinecker, Clemens; Schiller, Romana; Schilling, Beatrice; Schilling, Freimut; Schlieben, Steffi; Schmalbach, Thilo; Schmalzing, Marc Thomas; Schmid, Pirmin; Schmidt, Nadine; Schmidt, Reinhold Ernst; Schmitz, Monika; Schneider, Dominik; Schneider, Dominik T; Schneppenheim, Reinhard; Scholtes, Cathy; Schölvinck, EH; Schönberger, Stefan; Schreiber, Stefan; Schrijvers, Rik; Schroll, Andrea; Schruhl, Simone; Schrum, Johanna; Schubert, Ralf; Schuh, Sebastian; Schulz, Ansgar; Schulz, Claudia; Schulze, Ilka; Schulze-Koops, Hendrik; Schulze-Sturm, Ulf; Schumacher, Eva-Maria; Schürmann, Elvira; Schürmann, Gesine; Schuster, Volker; Schwaneck, Eva; Schwarz, Klaus; Schwarz, Tobias; Schwarze-Zander, Carolynne; Schweigerer, Lothar; Schwinger, Wolfgang; Sediva, Anna; Seebach, Jörg; Seger, Reinhard; Segerer, Florian; Selle, Barbara; Seneviratne, Suranjith; Shabanaj, Hatidje; Shcherbina, Anna; Siepelmeyer, Anne; Siepermann, Kathrin; Simon, Anna; Simon, Arne; Simon-Klingenstein, Katja; Simonovic, Marija; Simsen-Baratault, Merlin; Sindram, Elena; Skapenko, Alla; Skarke, Maiken; Skomska-Pawliszak, Malgorzata; Slatter, Mary; Smet, Julie; Sobh, Ali; Sobik, Bettina; Sogkas, Georgios; Sohm, Michael; Solanich-Moreno, Xavier; Palacín, Pere Soler; Sollinger, Franz; Somech, Raz; Sonnenschein, Anja; Soresina, Annarosa; Sornsakrin, Marijke; Soura, Stavrieta; Spaccarotella, Sabrina; Spadaro, Guiseppe; Sparber-Sauer, Monika; Specker, Christof; Speckmann, Carsten; Speidel, Lisa; Speletas, Matthaios; Stachel, Klaus-Daniel; Stadon, Catherine; Stanislas, Aurélie; Stapornwongkul, Cynthia; Staus, Paulina; Steck, Regina; Steele, Cathal; Steffin, Herbert; Steiner, Urs; Steinmann, Sandra; Stevens, Wim; Stiefel, Martina; Stieger, Sarah; Stiehler, Sophie; Stimm, Hermann; Stojanov, Silvia; Stoll, Matthias; Stoppa-Lyonnet, Dominique; Strapatsas, Tobias; Strauß, Gabriele; Streiter, Monika; Strik-Albers, Riet; Strotmann, Gaby; Casado, Héctor Suárez; Subiza, Jose Luis; Sundin, Mikael; Süß, Birgit; Sutter, Fabienne; Szaflarska, Anna; Szemkus, Monika; Tamary, Hannah; Tantou, Sofia; Tarzi, Michael D; Taschner, Helga; Tedgard, Ulf; Teixeira, Carla; Berge, RJM ten; Tenbrock, Klaus; Tester, Sabine; Tezcan, Ilhan; Thalguter, Sonja; Thalhammer, Julian; Thoma, Katharina; Thomas, Moira; Thomczyk, Fabian; Thon, Vojtech; Thrasher, Adrian; Tierney, Patricia; Tietsch, Nadine; Tommasini, Alberto; Tönnes, Beate; Tony, Hans-Peter; Trachana, Maria; Trapp, Carmen; Tricas, Lourdes; Trindade Neves, Maria Conceicao; Trischler, Jordis; Ubieto, Hugo; Uelzen, Anett; Uhlmann, Annette; Ullrich, Jan; Ullrich, Kurt; Ünal, Ekrem; Urbanski, Gerhard; Urschel, Simon; Uszynska, Aleksandra; Vacca, Angelo; Vaganov, NN; Vagedes, Daniel; Valicevic, Stefanie; Vallelian, Florence; van Beem, Rachel T; van Damme, Charlotte; van de Ven, Annick; Merlijn van den Berg, J; van der Flier, Michiel; van Dissel, JT; van Hagen, PM; van Montfrans, JM; van Ogtrop, Geoffrey; van Rens, Jacqui; van Riel, Christel AMP; van Royen-Kerkhof, Annet; Well, G Th J van; Vasiliki, Antari; Velbri, Sirje; Vencken, Jo; Ventura, Alessandro; Vermeulen, François; Vermylen, Christiane; Viemann, Dorothee; Viereck, Anja; Villa, Anna; Vincke, Jeroen; Vinnemeier-Laubenthal, Lisa; Vo Thi, Kim Duy; Vollbach, Kristina; Volokha, Alla; von Bernuth, Horst; von Bismarck, Philipp; Voss, Rebecca; Voß, Sandra; Vural, Yüksel; Wachuga, Heike; Wagner, Norbert; Wagström, Per; Wahle, Matthias; Wahn, Volker; Wapp, Nadine; Warnatz, Klaus; Warneke, Monika; Warris, Adilia; Wasmuth, Jan-Christian; Wasserfallen, Jean-Blaise; Wawer, Angela; Weber, Manfred; Weemaes, Corrie MR; Wehrle, Julius; Weidinger, Stephan; Weiß, Michael; Weißbarth-Riedel, Elisabeth; Werner, Antje; Wessel, Sara; Westkemper, Marco; Wicher, Monika; Wickmann, Lutz; Wiegert, Sabine; Wiehe, Monique; Wiehler, Katharina; Wiesböck, Lydia; Wiesik-Szewczyk, Ewa; Williams, Anthony; Winkler, Beate; Winkler, Christel; Winkler, Martina; Winkler, Melanie; Wintergerst, Uwe; Wisgrill, Lukas; Witte, Torsten; Wittkowski, Helmut; Wolf, Barbara; Wölke, Sandra; Wolschner, Christina; Wolska-Kusnierz, Beata; Wood, Philip; Workman, Sarita; Worth, Austen; Wortmann, Michaela; Wuillemin, Walter Alfred; Wulffraat, Nico M; Wustrau, Katharina; Wyndham-Thomas, Chloé; Yegin, Olcay; Yildiran, Alisan; Yilmaz, Denise; Young, Patrick; Yucel, Esra; Zečević, Milica; Zepp, Fred; Zetzsche, Klaus; Zeuner, Rainald; Zielen, Stefan; Zimmermann, Martina; Želimir, Erić; Abou-Chahla, Wadih; Aladjidi, Nathalie; Armari-Alla, Corinne; Barlogis, Vincent; Bayart, Sophie; Blanche, Stéphane; Bodet, Damien; Bonnotte, Bernard; Borie, Raphaël; Boutard, Patrick; Boutboul, David; Briandet, Claire; Brion, Jean-Paul; Brouard, Jacques; Castelle, Martin; Cathebras, Pascal; Carausu, Liana; Catherinot, Emilie; Cheikh, Nathalie; Cheminant, Morgane; Comont, Thibault; Couderc, Louis-Jean; Cougoul, Pierre; Deville, Anne; Devoldere, Catherine; Dore, Eric; Dulieu, Fabienne; Durieu, Isabelle; Entz-Werle, Natacha; Fieschi, Claire; Galicier, Lionel; Gandemer, Virginie; Gardembas, Martine; Gourguechon, Clément; Grosbois, Bernard; Guffroy, Aurélien; Guitton, Corinne; Guillerm, Gaëlle; Hamidou, Mohamed; Haro, Sophie; Hatchuel, Yves; Hermine, Olivier; Hoarau, Cyrille; Humbert, Sébastien; Jaccard, Arnaud; Jais, Jean-Philippe; Jannier, Sarah; Jacquot, Serge; Jaussaud, Roland; Jeandel, Pierre-Yves; Jeziorski, Eric; Kebaïli, Kamila; Korganow, Anne-Sophie; 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Source: Journal of Human Immunity , 1 (3) , Article e20250007. (2025)
Publisher Information: Rockefeller University Press
Publication Year: 2025
Collection: University College London: UCL Discovery
Subject Terms: Clinical phenotypes; Inborn errors of immunity
Description: The European Society for Immunodeficiencies patient registry (ESID-R), established in 1994, is one of the world’s largest databases on inborn errors of immunity (IEI). IEI are genetic disorders predisposing patients to infections, autoimmunity, inflammation, allergies, and malignancies. Treatments include antimicrobial therapy, immunoglobulin replacement, immune modulation, stem cell transplantation, and gene therapy. Data from 194 centers in 33 countries capture clinical manifestations and treatments from birth onward, with annually expected updates. This report reviews the ESID-R’s structure, data content, and impact. The registry includes 30,628 patient datasets (aged 0–97.9 years; median follow-up: 7.2 years; total 825,568.2 patient-years), with 13,550 cases in 15 sub-studies. It has produced 84 peer-reviewed publications (mean citation rate: 95). Findings include real-world observations of IEI diagnoses, genetic causes, clinical manifestations, treatments, and survival trends. The ESID-R fosters global collaboration, advancing IEI research and patient care. This report highlights the key role of the multinational ESID-R, led by an independent medical society, in evidence-based discovery.
Document Type: article in journal/newspaper
File Description: text
Language: English
Relation: https://discovery.ucl.ac.uk/id/eprint/10212597/1/jhi_20250007.pdf; https://discovery.ucl.ac.uk/id/eprint/10212597/
Availability: https://discovery.ucl.ac.uk/id/eprint/10212597/1/jhi_20250007.pdf; https://discovery.ucl.ac.uk/id/eprint/10212597/
Rights: open
Accession Number: edsbas.CD111B9A
Database: BASE