Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency von Gallon, Richard, Phelps, Rachel, Hayes, Christine, Brugieres, Laurence, Guerrini-Rousseau, Léa, Colas, Chrystelle, Muleris, Martine, Ryan, Neil A.J., Evans, D. Gareth, Grice, Hannah, Jessop, Emily, Kunzemann-Martinez, Annabel, Marshall, Lilla, Schamschula, Esther, Oberhuber, Klaus, Azizi, Amedeo A., Baris Feldman, Hagit, Beilken, Andreas, Brauer, Nina, Brozou, Triantafyllia, Dahan, Karin, Demirsoy, Ugur, Florkin, Benoît, Foulkes, William, Januszkiewicz-Lewandowska, Danuta, Jones, Kristi J., Kratz, Christian P., Lobitz, Stephan, Meade, Julia, Nathrath, Michaela, Pander, Hans-Jürgen, Perne, Claudia, Ragab, Iman, Ripperger, Tim, Rosenbaum, Thorsten, Rueda, Daniel, Sarosiek, Tomasz, Sehested, Astrid, Spier, Isabel, Suerink, Manon, Zimmermann, Stefanie-Yvonne, Zschocke, Johannes, Borthwick, Gillian M., Wimmer, Katharina, Burn, John, Jackson, Michael S., Santibanez-Koref, Mauro

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Clinical characteristics and outcomes of childhood-onset ANCA-associated vasculitis: a French nationwide study von Sacri, Anne-Sylvia, Chambaraud, Tristan, Ranchin, Bruno, Florkin, Benoît, Sée, Hélène, Decramer, Stéphane, Flodrops, Hugues, Ulinski, Tim, Allain-Launay, Emma, Boyer, Olivia, Dunand, Olivier, Fischbach, Michel, Hachulla, Eric, Pietrement, Christine, Le Pogamp, Patrick, Stephan, Jean-Louis, Belot, Alexandre, Nivet, Hubert, Nobili, François, Guillevin, Loic, Quartier, Pierre, Deschênes, Georges, Salomon, Rémi, Essig, Marie, Harambat, Jérôme

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Mevalonate kinase deficiency: a survey of 50 patients von Bader-Meunier, Brigitte, Florkin, Benoit, Sibilia, Jean, Acquaviva, Cécile, Hachulla, Eric, Grateau, Gilles, Richer, Olivier, Farber, Claire Michèle, Fischbach, Michel, Hentgen, Véronique, Jego, Patrick, Laroche, Cécile, Neven, Bénédicte, Lequerré, Thierry, Mathian, Alexis, Pellier, Isabelle, Touitou, Isabelle, Rabier, Daniel, Prieur, Anne-Marie, Cuisset, Laurence, Quartier, Pierre

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Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation von Seidel, Markus G., MD, Böhm, Katrin, Cm, Dogu, Figen, MD, Worth, Austen, MD, Thrasher, Adrian, MD, Florkin, Benoit, MD, İkincioğulları, Aydan, MD, Peters, Anke, MD, Bakhtiar, Shahrzad, MD, Meeths, Marie, MD, Stepensky, Polina, MD, Meyts, Isabelle, MD, Sharapova, Svetlana O., MD, Gámez-Díaz, Laura, PhD, Hammarström, Lennart, MD, Ehl, Stephan, MD, Grimbacher, Bodo, MD, Gennery, Andrew R., MD

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Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction von Moens, Leen, Gouwy, Mieke, Bosch, Barbara, Pastukhov, Oleksandr, Nieto-Patlàn, Alejandro, Siler, Ulrich, Bucciol, Giorgia, Mekahli, Djalila, Vermeulen, François, Desmet, Lars, Maebe, Sophie, Flipts, Helena, Corveleyn, Anniek, Moshous, Despina, Philippet, Pierre, Tangye, Stuart G., Boisson, Bertrand, Casanova, Jean-Laurent, Florkin, Benoit, Struyf, Sofie, Reichenbach, Janine, Bustamante, Jacinta, Notarangelo, Luigi D., Meyts, Isabelle

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Cernunnos Deficiency Reduces Thymocyte Life Span and Alters the T Cell Repertoire in Mice and Humans von Vera, Gabriella, Rivera-Munoz, Paola, Abramowski, Vincent, Malivert, Laurent, Lim, Annick, Bole-Feysot, Christine, Martin, Christelle, Florkin, Benoit, Latour, Sylvain, Revy, Patrick, de Villartay, Jean-Pierre

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Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients von Neven, Bénédicte, Bruneau, Julie, Stolzenberg, Marie-Claude, Meyts, Isabelle, Magerus-Chatinet, Aude, Moens, Leen, Lanzarotti, Nina, Weller, Sandra, Amiranoff, Denise, Florkin, Benoit, Bader-Meunier, Brigitte, Leverger, Guy, Ferster, Alice, Chantrain, Christophe, Blanche, Stéphane, Picard, Capucine, Molina, Thierry Jo, Brousse, Nicole, Durandy, Anne, Rizzi, Marta, Bossuyt, Xavier, Fischer, Alain, Rieux-Laucat, Frederic

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Osteopetrosis mimicking juvenile myelomonocytic leukemia von Hoyoux, Claire, Dresse, Marie Françoise, Forget, Patricia, Piette, Caroline, Rausin, Léon, Villa, Anna, Gothot, Andre, Florkin, Benoit

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Anakinra pharmacokinetics in children and adolescents with systemic-onset juvenile idiopathic arthritis and autoinflammatory syndromes von Urien, Saik, Bardin, Christophe, Bader-Meunier, Brigitte, Mouy, Richard, Compeyrot-Lacassagne, Sandrine, Foissac, Franz, Florkin, Benoît, Wouters, Carine, Neven, Bénédicte, Treluyer, Jean-Marc, Quartier, Pierre

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Increased Expression of Bone Sialoprotein in Bone Metastases Compared with Visceral Metastases in Human Breast and Prostate Cancers von Waltregny, David, Bellahcène, Akeila, De Leval, Xavier, Florkin, Benoǐt, Weidle, Ulrich, Castronovo, Vincent

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Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score von Tesch, Victoria Katharina, Abolhassani, Hassan, Shadur, Bella, Zobel, Joachim, Mareika, Yuliya, Sharapova, Svetlana, Karakoc-Aydiner, Elif, Rivière, Jacques G., Garcia-Prat, Marina, Moes, Nicolette, Haerynck, Filomeen, Gonzales-Granado, Luis I., Santos Pérez, Juan Luis, Mukhina, Anna, Shcherbina, Anna, Aghamohammadi, Asghar, Hammarström, Lennart, Dogu, Figen, Haskologlu, Sule, İkincioğulları, Aydan İ., Köstel Bal, Sevgi, Baris, Safa, Kilic, Sara Sebnem, Karaca, Neslihan Edeer, Kutukculer, Necil, Girschick, Hermann, Kolios, Antonios, Keles, Sevgi, Uygun, Vedat, Stepensky, Polina, Worth, Austen, van Montfrans, Joris M., Peters, Anke M.J., Meyts, Isabelle, Adeli, Mehdi, Marzollo, Antonio, Padem, Nurcicek, Khojah, Amer M., Chavoshzadeh, Zahra, Avbelj Stefanija, Magdalena, Bakhtiar, Shahrzad, Florkin, Benoit, Meeths, Marie, Gamez, Laura, Grimbacher, Bodo, Seppänen, Mikko R.J., Lankester, Arjan, Gennery, Andrew R., Seidel, Markus G.

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TIM3(+)TRBV11-2 T cells and IFN gamma signature in patrolling monocytes and CD16(+) NK cells delineate MIS-C von Hoste, Levi, Roels, Lisa, Naesens, Leslie, Bosteels, Victor, Vanhee, Stijn, Dupont, Sam, Bosteels, Cedric, Browaeys, Robin, Vandamme, Niels, Verstaen, Kevin, Roels, Jana, Van Damme, Karel F. A., Maes, Bastiaan, De Leeuw, Elisabeth, Declercq, Jozefien, Aegerter, Helena, Seys, Leen, Smole, Ursula, De Prijck, Sofie, Vanheerswynghels, Manon, Claes, Karlien, Debacker, Veronique, Van Isterdael, Gert, Backers, Lynn, Claes, Kathleen B. M., Bastard, Paul, Jouanguy, Emmanuelle, Zhang, Shen-Ying, Mets, Gilles, Dehoorne, Joke, Vandekerckhove, Kristof, Schelstraete, Petra, Willems, Jef, Willekens, Julie, Stordeur, Patrick, Janssens, Sophie, Beyaert, Rudi, Saeys, Yvan, Casanova, Jean-Laurent, Lambrecht, Bart N., Haerynck, Filomeen, Tavernier, Simon J.

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A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation von Neven, Bénédicte, Magerus-Chatinet, Aude, Florkin, Benoit, Gobert, Delphine, Lambotte, Olivier, De Somer, Lien, Lanzarotti, Nina, Stolzenberg, Marie-Claude, Bader-Meunier, Brigitte, Aladjidi, Nathalie, Chantrain, Christophe, Bertrand, Yves, Jeziorski, Eric, Leverger, Guy, Michel, Gérard, Suarez, Felipe, Oksenhendler, Eric, Hermine, Olivier, Blanche, Stéphane, Picard, Capucine, Fischer, Alain, Rieux-Laucat, Frédéric

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Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patients von Riller, Quentin, Fourgeaud, Jacques, Bruneau, Julie, De Ravin, Suk See, Smith, Grace, Fusaro, Mathieu, Meriem, Samy, Magerus, Aude, Luka, Marine, Abdessalem, Ghaith, Lhermitte, Ludovic, Jamet, Anne, Six, Emmanuelle, Magnani, Alessandra, Castelle, Martin, Lévy, Romain, Lecuit, Mathilde M., Fournier, Benjamin, Winter, Sarah, Semeraro, Michaela, Pinto, Graziella, Abid, Hanène, Mahlaoui, Nizar, Cheikh, Nathalie, Florkin, Benoit, Frange, Pierre, Jeziorski, Eric, Suarez, Felipe, Sarrot-Reynauld, Françoise, Nouar, Dalila, Debray, Dominique, Lacaille, Florence, Picard, Capucine, Pérot, Philippe, Regnault, Béatrice, Da Rocha, Nicolas, de Cevins, Camille, Delage, Laure, Pérot, Brieuc P., Vinit, Angélique, Carbone, Francesco, Brunaud, Camille, Marchais, Manon, Stolzenberg, Marie-Claude, Asnafi, Vahid, Molina, Thierry, Rieux-Laucat, Frédéric, Notarangelo, Luigi D., Pittaluga, Stefania, Jais, Jean Philippe, Moshous, Despina, Blanche, Stephane, Malech, Harry, Eloit, Marc, Cavazzana, Marina, Fischer, Alain, Ménager, Mickaël M., Neven, Bénédicte

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A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes von Gallon, Richard, Mühlegger, Barbara, Wenzel, Sören‐Sebastian, Sheth, Harsh, Hayes, Christine, Aretz, Stefan, Dahan, Karin, Foulkes, William, Kratz, Christian P., Ripperger, Tim, Azizi, Amedeo A., Baris Feldman, Hagit, Chong, Anne‐Laure, Demirsoy, Ugur, Florkin, Benoît, Imschweiler, Thomas, Januszkiewicz‐Lewandowska, Danuta, Lobitz, Stephan, Nathrath, Michaela, Pander, Hans‐Jürgen, Perez‐Alonso, Vanesa, Perne, Claudia, Ragab, Iman, Rosenbaum, Thorsten, Rueda, Daniel, Seidel, Markus G., Suerink, Manon, Taeubner, Julia, Zimmermann, Stefanie‐Yvonne, Zschocke, Johannes, Borthwick, Gillian M., Burn, John, Jackson, Michael S., Santibanez‐Koref, Mauro, Wimmer, Katharina

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Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia von Zhang, Qian, Matuozzo, Daniela, Le Pen, Jeremie, Lee, Danyel, Moens, Leen, Asano, Takaki, Bohlen, Jonathan, Liu, Zhiyong, Moncada-Velez, Marcela, Kendir-Demirkol, Yasemin, Jing, Huie, Bizien, Lucy, Marchal, Astrid, Abolhassani, Hassan, Delafontaine, Selket, Bucciol, Giorgia, Bayhan, Gulsum Ical, Keles, Sevgi, Kiykim, Ayca, Hancerli, Selda, Haerynck, Filomeen, Florkin, Benoit, Hatipoglu, Nevin, Ozcelik, Tayfun, Morelle, Guillaume, Zatz, Mayana, Ng, Lisa F.P, Lye, David Chien, Young, Barnaby Edward, Leo, Yee-Sin, Dalgard, Clifton L, Lifton, Richard P, Renia, Laurent, Meyts, Isabelle, Jouanguy, Emmanuelle, Hammarstrom, Lennart, Pan-Hammarstrom, Qiang, Boisson, Bertrand, Bastard, Paul, Su, Helen C, Boisson-Dupuis, Stephanie, Abel, Laurent, Rice, Charles M, Zhang, Shen-Ying, Cobat, Aurelie, Casanova, Jean-Laurent

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Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia von Zhang, Qian, Matuozzo, Daniela, Le Pen, Jérémie, Lee, Danyel, Moens, Leen, Asano, Takaki, Bohlen, Jonathan, Liu, Zhiyong, Moncada-Velez, Marcela, Kendir-Demirkol, Yasemin, Jing, Huie, Bizien, Lucy, Marchal, Astrid, Abolhassani, Hassan, Delafontaine, Selket, Bucciol, Giorgia, Bayhan, Gulsum Ical, Keles, Sevgi, Kiykim, Ayca, Hancerli, Selda, Haerynck, Filomeen, Florkin, Benoit, Hatipoglu, Nevin, Ozcelik, Tayfun, Morelle, Guillaume, Zatz, Mayana, Ng, Lisa F.P, Lye, David Chien, Young, Barnaby Edward, Leo, Yee-Sin, Dalgard, Clifton L, Lifton, Richard P, Renia, Laurent, Meyts, Isabelle, Jouanguy, Emmanuelle, Hammarström, Lennart, Pan-Hammarström, Qiang, Boisson, Bertrand, Bastard, Paul, Su, Helen C, Boisson-Dupuis, Stéphanie, Abel, Laurent, Rice, Charles M, Zhang, Shen-Ying, Cobat, Aurélie, Casanova, Jean-Laurent, COVID Human Genetic Effort, [missing]

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Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation von Seidel, Markus G, Böhm, Katrin, Dogu, Figen, Worth, Austen, Thrasher, Adrian, Florkin, Benoit, İkincioğulları, Aydan, Peters, Anke, Bakhtiar, Shahrzad, Meeths, Marie, Stepensky, Polina, Meyts, Isabelle, Sharapova, Svetlana O, Gámez-Díaz, Laura, Hammarström, Lennart, Ehl, Stephan, Grimbacher, Bodo, Gennery, Andrew R

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Pneumococcal antibody levels in children with PID receiving immunoglobulin von Tuerlinckx, David, Florkin, Benoit, Ferster, Alina, De Schutter, Iris, Chantrain, Christophe, Haerynck, Filomeen, Philippet, Pierre, Strengers, Paul, Laub, Ruth

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Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score von Tesch, Victoria Katharina, Abolhassani, Hassan, Shadur, Bella, Zobel, Joachim, Mareika, Yuliya, Sharapova, Svetlana, Karakoc-Aydiner, Elif, Riviere, Jacques G, Garcia-Prat, Marina, Moes, Nicolette, Haerynck, Filomeen, Gonzales-Granado, Luis I, Santos Perez, Juan Luis, Mukhina, Anna, Shcherbina, Anna, Aghamohammadi, Asghar, Hammarstrom, Lennart, Dogu, Figen, Haskologlu, Sule, Ikinciogullari, Aydan I, Bal, Sevgi Kostel, Baris, Safa, Kilic, Sara Sebnem, Karaca, Neslihan Edeer, Kutukculer, Necil, Girschick, Hermann, Kolios, Antonios, Keles, Sevgi, Uygun, Vedat, Stepensky, Polina, Worth, Austen, van Montfrans, Joris M, Peters, Anke M.J, Meyts, Isabelle, Adeli, Mehdi, Marzollo, Antonio, Padem, Nurcicek, Khojah, Amer M, Chavoshzadeh, Zahra, Stefanija, Magdalena Avbelj, Bakhtiar, Shahrzad, Florkin, Benoit, Meeths, Marie, Gamez, Laura, Grimbacher, Bodo, Seppanen, Mikko R.J, Lankester, Arjan, Gennery, Andrew R, Seidel, Markus G

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