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33 results on '"Pac, Malgorzata"'

1. Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia

Author

Soomann, Maarja, Bily, Viktor, Elgizouli, Magdeldin, Kraemer, Dennis, Akgül, Gülfirde, von Bernuth, Horst, Bloomfield, Markéta, Brodszki, Nicholas, Candotti, Fabio, Förster-Waldl, Elisabeth, Freiberger, Tomas, Giżewska, Maria, Klocperk, Adam, Kölsch, Uwe, Nichols, Kim E., Krüger, Renate, Oak, Ninad, Pac, Małgorzata, Prader, Seraina, Schmiegelow, Kjeld, Šedivá, Anna, Sogkas, Georgios, Stittrich, Anna, Stoltze, Ulrik Kristoffer, Theodoropoulou, Katerina, Wadt, Karin, Wong, Melanie, Zeyda, Maximillian, Pachlopnik Schmid, Jana, and Trück, Johannes

Published
2024
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2. Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study

Author

Abinun, Mario, Abrahamsen, Tore G., Albert, Michael H., Almalky, Mohamed, Altaf, Sadaf, Babayeva, Royala, Bakhtiar, Shahrzad, Baris, Safa, Baumann, Ulrich, Becker, Martina, Beier, Rita, Berger, Thomas, Biebl, Ariane, Bielack, Stefan S., Biskup, Saskia, Bode, Sebastian FN, Borchers, Regine, Boztug, Kaan, Brockmann, Knut, Bruwier, Annelyse, Buchholz, Bernd, Caballero-Oteyza, Andres, Cant, Andrew J., Castro, Carla N., Classen, Carl F., Claviez, Alexander, Crazzolara, Roman, Cuntz, Franziska, Dąbrowska-Leonik, Nel, Derichs, Ute, Dückers, Gregor, Eberl, Wolfgang, Ebetsberger-Dachs, Georg, Erlacher, Miriam, Fabre, Alexandre, Faletti, Laura, Farmand, Susan, Figueiredo, Antonio E., Fischer, Marco, Flaadt, Tim, Full, Hermann, Gambineri, Eleonora, Girschick, Hermann, Goldacker, Sigune, Grimbacher, Bodo, Groß, Miriam, Gruhn, Bernd, Haberfellner, Florian, Hague, Rosie, Hauch, Holger, Hauck, Fabian, Heine, Sabine, Huisman, Elise J., Jakovljevic, Gordana, James, Beki, Janda, Ales, Jones, Neil, Kaiser-Labusch, Petra, Kentouche, Karim, Knight, Julian C., Knirsch, Stephanie, Kontny, Udo, Körholz, Julia, Krenn, Thomas, Kuehnle, Ingrid, Kühne, Thomas, Lee-Dimroth, Jae-Yun, Lehmann, Hartwig, Leipold, Alfred, Meinhardt, Andrea, Minkov, Milen, Mönkemöller, Kirsten, Morbach, Henner, Mücke, Urs, Nathrath, Michaela, Naumann-Bartsch, Nora, Neth, Olaf, Niemeyer, Charlotte M., Olbrich, Peter, Ostró, Róbert, Owens, Stephen, Pac, Malgorzata, Pachlopnik Schmid, Jana, Page, Matthew J.T., Pekrun, Arnulf, Prader, Seraina, Proietti, Michele, Rajacic, Nada, Rothoeft, Tobias, Ryan, Clodagh, Salou, Sarah, Salzer, Elisabeth, Savic, Sinisa, Schilling, Freimut H., Schönberger, Stefan, Schuetz, Catharina, Schuez-Havupalo, Linnea, Schulte, Björn, Schulz, Ansgar, Schuster, Volker, Seidel, Markus G., Siepermann, Kathrin, Skomska-Pawliszak, Malgorzata, Smisek, Petr, Soomann, Maarja, Stiefel, Martina, Storck, Simone, Strahm, Brigitte, Streiter, Monika, Teltschik, Heiko-Manuel, Thalhammer, Julian, Tippelt, Stephan, Toskov, Vasil, Trück, Johannes, Vieth, Simon, von Bismarck, Philipp, Wegehaupt, Oliver, Wiesel, Thomas, Wittkowski, Helmut, Yalcin Gungoren, Ezgi, Hägele, Pauline, Staus, Paulina, Scheible, Raphael, Uhlmann, Annette, Heeg, Maximilian, Klemann, Christian, Maccari, Maria Elena, Ritterbusch, Henrike, Armstrong, Martin, Cutcutache, Ioana, Elliott, Katherine S, von Bernuth, Horst, Leahy, Timothy Ronan, Leyh, Jörg, Holzinger, Dirk, Lehmberg, Kai, Svec, Peter, Masjosthusmann, Katja, Hambleton, Sophie, Jakob, Marcus, Sparber-Sauer, Monika, Kager, Leo, Puzik, Alexander, Wolkewitz, Martin, Lorenz, Myriam Ricarda, Schwarz, Klaus, Speckmann, Carsten, Rensing-Ehl, Anne, and Ehl, Stephan

Published
2024
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3. European Society for Immunodeficiencies guidelines for the management of patients with congenital athymia

Author

Burns, Siobhan O., Carrabba, Maria, Gardulf, Ann, Haerynck, Filomeen, Hauck, Fabian, Jandus, Peter, Meyts, Isabelle, Klocperk, Adam, Neven, Bénédicte, Pac, Malgorzata, Pergent, Martine, Sediva, Anna, Soler-Palacín, Pere, Velcheva, Margarita, Warnatz, Klaus, Kreins, Alexandra Y., Dhalla, Fatima, Flinn, Aisling M., Howley, Evey, Ekwall, Olov, Villa, Anna, Staal, Frank J.T., Anderson, Graham, Gennery, Andrew R., Holländer, Georg A., and Davies, E. Graham

Published
2024
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4. Impact of newborn screening for SCID on the management of congenital athymia

Author

Howley, Evey, Golwala, Zainab, Buckland, Matthew, Barzaghi, Federica, Ghosh, Sujal, Hackett, Scott, Hague, Rosie, Hauck, Fabian, Holzer, Ursula, Klocperk, Adam, Koskenvuo, Minna, Marcus, Nufar, Marzollo, Antonio, Pac, Malgorzata, Sinclair, Jan, Speckmann, Carsten, Soomann, Maarja, Speirs, Lynne, Suresh, Sneha, Taque, Sophie, van Montfrans, Joris, von Bernuth, Horst, Wainstein, Brynn K., Worth, Austen, Davies, E. Graham, and Kreins, Alexandra Y.

Published
2024
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5. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

Author

Seidel, Markus G., Seppänen, Mikko R.J., Gennery, Andrew, Kanariou, Maria G., Tantou, Sofia, Grigoriadou, Sofia, Cericola, Gabriella, Hanitsch, Leif G., Scheibenbogen, Carmen, Hlaváčková, Eva O., Krivan, Gergely, McGuire, Frances K., Leahy, Timothy Ronan, Edgar, John David M., Bakhtiar, Shahrzad, Bader, Peter, Rohner, Geraldine Blanchard, Haerynck, Filomeen, Claes, Karlien, Lehmberg, Kai, Müller, Ingo, Farmand, Susan, Fasshauer, Maria, Graf, Dagmar, Neves, Joao Farela, Kostyuchenko, Larysa, Gonzalez-Granado, Luis Ignacio, Jeseňák, Miloš, Carrabba, Maria, Fabio, Giovanna, Pignata, Claudio, Giardino, Giuliana, Karadağ, Ilknur Kökçü, Yıldıran, Alişan, Hancioglu, Gonca, Králíčková, Pavlína, Steinmann, Sandra, Pietrucha, Barbara Maria, Gernert, Michael, Soomann, Maarja, Witte, Torsten, Markocsy, Adam, Wolska-Kusnierz, Beata, Randrianomenjanahary, Philippe, Rouger, Jérémie, Kostaridou, Stavroula, Zabara, Dariia V., Rodina, Yulia A., Shvets, Oksana A., 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, Cathébras, 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, Hammarström, Lennart, 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, Körholz, Julia, Krüger, 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, Trück, 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, Forbes Satter, Lisa R., Kracker, Sven, Chandra, Anita, Condliffe, Alison M., and Ehl, Stephan

Published
2023
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7. Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Author

Bolze, Alexandre, Boisson, Bertrand, Bosch, Barbara, Antipenko, Alexander, Bouaziz, Matthieu, Sackstein, Paul, Chaker-Margot, Malik, Barlogis, Vincent, Briggs, Tracy, Colino, Elena, Elmore, Aurora C, Fischer, Alain, Genel, Ferah, Hewlett, Angela, Jedidi, Maher, Kelecic, Jadranka, Krüger, Renate, Ku, Cheng-Lung, Kumararatne, Dinakantha, Lefevre-Utile, Alain, Loughlin, Sam, Mahlaoui, Nizar, Markus, Susanne, Garcia, Juan-Miguel, Nizon, Mathilde, Oleastro, Matias, Pac, Malgorzata, Picard, Capucine, Pollard, Andrew J, Rodriguez-Gallego, Carlos, Thomas, Caroline, Von Bernuth, Horst, Worth, Austen, Meyts, Isabelle, Risolino, Maurizio, Selleri, Licia, Puel, Anne, Klinge, Sebastian, Abel, Laurent, and Casanova, Jean-Laurent

Subjects
Clinical Research, Human Genome, Pediatric, Genetics, 2.1 Biological and endogenous factors, Aetiology, 5' Untranslated Regions, Exons, Female, Founder Effect, Heterozygote, Humans, Immunologic Deficiency Syndromes, Male, Mutation, Penetrance, Primary Immunodeficiency Diseases, Protein Biosynthesis, RNA Splicing, Receptors, Laminin, Ribosomal Proteins, Spleen, isolated congenital asplenia, spleen, incomplete penetrance, ribosomopathy, RPSA
Abstract

Isolated congenital asplenia (ICA) is the only known human developmental defect exclusively affecting a lymphoid organ. In 2013, we showed that private deleterious mutations in the protein-coding region of RPSA, encoding ribosomal protein SA, caused ICA by haploinsufficiency with complete penetrance. We reported seven heterozygous protein-coding mutations in 8 of the 23 kindreds studied, including 6 of the 8 multiplex kindreds. We have since enrolled 33 new kindreds, 5 of which are multiplex. We describe here 11 new heterozygous ICA-causing RPSA protein-coding mutations, and the first two mutations in the 5'-UTR of this gene, which disrupt mRNA splicing. Overall, 40 of the 73 ICA patients (55%) and 23 of the 56 kindreds (41%) carry mutations located in translated or untranslated exons of RPSA. Eleven of the 43 kindreds affected by sporadic disease (26%) carry RPSA mutations, whereas 12 of the 13 multiplex kindreds (92%) carry RPSA mutations. We also report that 6 of 18 (33%) protein-coding mutations and the two (100%) 5'-UTR mutations display incomplete penetrance. Three mutations were identified in two independent kindreds, due to a hotspot or a founder effect. Finally, RPSA ICA-causing mutations were demonstrated to be de novo in 7 of the 23 probands. Mutations in RPSA exons can affect the translated or untranslated regions and can underlie ICA with complete or incomplete penetrance.

Published
2018

8. Impact of newborn screening for SCID on the management of congenital athymia

Author

Cluster B, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Howley, Evey, Golwala, Zainab, Buckland, Matthew, Barzaghi, Federica, Ghosh, Sujal, Hackett, Scott, Hague, Rosie, Hauck, Fabian, Holzer, Ursula, Klocperk, Adam, Koskenvuo, Minna, Marcus, Nufar, Marzollo, Antonio, Pac, Malgorzata, Sinclair, Jan, Speckmann, Carsten, Soomann, Maarja, Speirs, Lynne, Suresh, Sneha, Taque, Sophie, van Montfrans, Joris, von Bernuth, Horst, Wainstein, Brynn K., Worth, Austen, Davies, E. Graham, Kreins, Alexandra Y., Cluster B, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Howley, Evey, Golwala, Zainab, Buckland, Matthew, Barzaghi, Federica, Ghosh, Sujal, Hackett, Scott, Hague, Rosie, Hauck, Fabian, Holzer, Ursula, Klocperk, Adam, Koskenvuo, Minna, Marcus, Nufar, Marzollo, Antonio, Pac, Malgorzata, Sinclair, Jan, Speckmann, Carsten, Soomann, Maarja, Speirs, Lynne, Suresh, Sneha, Taque, Sophie, van Montfrans, Joris, von Bernuth, Horst, Wainstein, Brynn K., Worth, Austen, Davies, E. Graham, and Kreins, Alexandra Y.

Published
2024

9. Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study

Author

Hägele, Pauline, primary, Staus, Paulina, additional, Scheible, Raphael, additional, Uhlmann, Annette, additional, Heeg, Maximilian, additional, Klemann, Christian, additional, Maccari, Maria Elena, additional, Ritterbusch, Henrike, additional, Armstrong, Martin, additional, Cutcutache, Ioana, additional, Elliott, Katherine S, additional, von Bernuth, Horst, additional, Leahy, Timothy Ronan, additional, Leyh, Jörg, additional, Holzinger, Dirk, additional, Lehmberg, Kai, additional, Svec, Peter, additional, Masjosthusmann, Katja, additional, Hambleton, Sophie, additional, Jakob, Marcus, additional, Sparber-Sauer, Monika, additional, Kager, Leo, additional, Puzik, Alexander, additional, Wolkewitz, Martin, additional, Lorenz, Myriam Ricarda, additional, Schwarz, Klaus, additional, Speckmann, Carsten, additional, Rensing-Ehl, Anne, additional, Ehl, Stephan, additional, Abinun, Mario, additional, Abrahamsen, Tore, additional, Albert, Michael, additional, Almalky, Mohamed, additional, Altaf, Sadaf, additional, Babayeva, Royala, additional, Bakhtiar, Shahrzad, additional, Baris, Safa, additional, Baumann, Ulrich, additional, Becker, Martina, additional, Berger, Thomas, additional, Biebl, Ariane, additional, Bielack, Stefan, additional, Biskup, Saskia, additional, Bismarck, Philipp, additional, Bode, Sebastian, additional, Borchers, Regine, additional, Boztug, Carl Friedrich, additional, Brockmann, Knut, additional, Bruwier, Annelyse, additional, Buchholz, Bernd, additional, Cant, Andrew, additional, Castro, Carla N, additional, Classen, Carl, additional, Claviez, Alexander, additional, Crazzolara, Roman, additional, Cuntz, Franziska, additional, Dąbrowska-Leonik, Nel, additional, Derichs, Ute, additional, Dückers, Gregor, additional, Eberl, Wolfgang, additional, Ebetsberger-Dachs, Georg, additional, Erlacher, Miriam, additional, Fabre, Alexandre, additional, Faletti, Laura, additional, Farmand, Susan, additional, Figueiredo, Antonio, additional, Fischer, Marco, additional, Flaadt, Tim, additional, Full, Hermann, additional, Gambineri, Eleonora, additional, Girschick, Hermann, additional, Goldacker, Sigune, additional, Grimbacher, Bodo, additional, Groß, Miriam, additional, Gruhn, Andrew J, additional, Gungoren, Ezgi, additional, Haberfellner, Florian, additional, Hague, Rosie, additional, Hauch, Holger, additional, Hauck, Fabian, additional, Heine, Sabine, additional, Huisman, Elise, additional, Jakovljevic, Gordana, additional, James, Beki, additional, Janda, Ales, additional, Janda, Małgorzata, additional, Jones, Neil, additional, Kaiser-Labusch, Petra, additional, Kentouche, Karim, additional, Knight, Julian, additional, Knirsch, Stephanie, additional, Kontny, Udo, additional, Körholz, Julia, additional, Krenn, Ezgi Yalcin, additional, Kuehnle, Ingrid, additional, Kühne, Thomas, additional, Lee-Dimroth, Jae-Yun, additional, Lehmann, Hartwig, additional, Leipold, Michael H., additional, Meinhardt, Andrea, additional, Mönkemöller, Kirsten, additional, Morbach, Henner, additional, Mücke, Urs, additional, Nathrath, Michaela, additional, Naumann-Bartsch, Nora, additional, Neth, Olaf, additional, Niemeyer, Charlotte, additional, Olbrich, Peter, additional, Ostró, Róbert, additional, Owens, Stephen, additional, Pac, Malgorzata, additional, Pachlopnik Schmid, Rita, additional, Page, Markus G., additional, Pekrun, Arnulf, additional, Prader, Seraina, additional, Proietti, Michele, additional, Rajacic, Nada, additional, Rothoeft, Tobias, additional, Ryan, Freimut H., additional, Salou, Sarah, additional, Salzer, Elisabeth, additional, Savic, Sinisa, additional, Schilling, Antonio E., additional, Schmid, Jana, additional, Schönberger, Stefan, additional, Schuetz, Catharina, additional, Schuez-Havupalo, Tore G., additional, Schulte, Björn, additional, Schulz, Ansgar, additional, Schuster, Volker, additional, Seidel, Markus, additional, Siepermann, Kathrin, additional, Smisek, Petr, additional, Soomann, Maarja, additional, Stiefel, Martina, additional, Storck, Simone, additional, Strahm, Brigitte, additional, Streiter, Elise J, additional, Teltschik, Charlotte M., additional, Thalhammer, Julian, additional, Tippelt, Stephan, additional, Toskov, Vasil, additional, Trück, Johannes, additional, Vieth, Simon, additional, Wegehaupt, Oliver, additional, and Wiesel, Thomas, additional

Published
2024
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10. Impact of newborn screening for SCID on the management of congenital athymia

Author

Howley, Evey, primary, Golwala, Zainab, additional, Buckland, Matthew, additional, Barzaghi, Federica, additional, Ghosh, Sujal, additional, Hackett, Scott, additional, Hague, Rosie, additional, Hauck, Fabian, additional, Holzer, Ursula, additional, Klocperk, Adam, additional, Koskenvuo, Minna, additional, Marcus, Nufar, additional, Marzollo, Antonio, additional, Pac, Malgorzata, additional, Sinclair, Jan, additional, Speckmann, Carsten, additional, Soomann, Maarja, additional, Speirs, Lynne, additional, Suresh, Sneha, additional, Taque, Sophie, additional, van Montfrans, Joris, additional, von Bernuth, Horst, additional, Wainstein, Brynn K., additional, Worth, Austen, additional, Davies, E. Graham, additional, and Kreins, Alexandra Y., additional

Published
2023
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12. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

Author

Maccari, Maria Elena, primary, Wolkewitz, Martin, additional, Schwab, Charlotte, additional, Lorenzini, Tiziana, additional, Leiding, Jennifer W., additional, Aladjdi, Nathalie, additional, Abolhassani, Hassan, additional, Abou-Chahla, Wadih, additional, Aiuti, Alessandro, additional, Azarnoush, Saba, additional, Baris, Safa, additional, Barlogis, Vincent, additional, Barzaghi, Federica, additional, Baumann, Ulrich, additional, Bloomfield, Marketa, additional, Bohynikova, Nadezda, additional, Bodet, Damien, additional, Boutboul, David, additional, Bucciol, Giorgia, additional, Buckland, Matthew S., additional, Burns, Siobhan O., additional, Cancrini, Caterina, additional, Cathébras, Pascal, additional, Cavazzana, Marina, additional, Cheminant, Morgane, additional, Chinello, Matteo, additional, Ciznar, Peter, additional, Coulter, Tanya I., additional, D’Aveni, Maud, additional, Ekwall, Olov, additional, Eric, Zelimir, additional, Eren, Efrem, additional, Fasth, Anders, additional, Frange, Pierre, additional, Fournier, Benjamin, additional, Garcia-Prat, Marina, additional, Gardembas, Martine, additional, Geier, Christoph, additional, Ghosh, Sujal, additional, Goda, Vera, additional, Hammarström, Lennart, additional, Hauck, Fabian, additional, Heeg, Maximilian, additional, Heropolitanska-Pliszka, Edyta, additional, Hilfanova, Anna, additional, Jolles, Stephen, additional, Karakoc-Aydiner, Elif, additional, Kindle, Gerhard R., additional, Kiykim, Ayca, additional, Klemann, Christian, additional, Koletsi, Patra, additional, Koltan, Sylwia, additional, Kondratenko, Irina, additional, Körholz, Julia, additional, Krüger, Renate, additional, Jeziorski, Eric, additional, Levy, Romain, additional, Le Guenno, Guillaume, additional, Lefevre, Guillaume, additional, Lougaris, Vassilios, additional, Marzollo, Antonio, additional, Mahlaoui, Nizar, additional, Malphettes, Marion, additional, Meinhardt, Andrea, additional, Merlin, Etienne, additional, Meyts, Isabelle, additional, Milota, Tomas, additional, Moreira, Fernando, additional, Moshous, Despina, additional, Mukhina, Anna, additional, Neth, Olaf, additional, Neubert, Jennifer, additional, Neven, Benedicte, additional, Nieters, Alexandra, additional, Nove-Josserand, Raphaele, additional, Oksenhendler, Eric, additional, Ozen, Ahmet, additional, Olbrich, Peter, additional, Perlat, Antoinette, additional, Pac, Malgorzata, additional, Schmid, Jana Pachlopnik, additional, Pacillo, Lucia, additional, Parra-Martinez, Alba, additional, Paschenko, Olga, additional, Pellier, Isabelle, additional, Sefer, Asena Pinar, additional, Plebani, Alessandro, additional, Plantaz, Dominique, additional, Prader, Seraina, additional, Raffray, Loic, additional, Ritterbusch, Henrike, additional, Riviere, Jacques G., additional, Rivalta, Beatrice, additional, Rusch, Stephan, additional, Sakovich, Inga, additional, Savic, Sinisa, additional, Scheible, Raphael, additional, Schleinitz, Nicolas, additional, Schuetz, Catharina, additional, Schulz, Ansgar, additional, Sediva, Anna, additional, Semeraro, Michaela, additional, Sharapova, Svetlana O., additional, Shcherbina, Anna, additional, Slatter, Mary A., additional, Sogkas, Georgios, additional, Soler-Palacin, Pere, additional, Speckmann, Carsten, additional, Stephan, Jean-Louis, additional, Suarez, Felipe, additional, Tommasini, Alberto, additional, Trück, Johannes, additional, Uhlmann, Annette, additional, van Aerde, Koen J., additional, van Montfrans, Joris, additional, von Bernuth, Horst, additional, Warnatz, Klaus, additional, Williams, Tony, additional, Worth, Austen J.J., additional, Ip, Winnie, additional, Picard, Capucine, additional, Catherinot, Emilie, additional, Nademi, Zohreh, additional, Grimbacher, Bodo, additional, Forbes Satter, Lisa R., additional, Kracker, Sven, additional, Chandra, Anita, additional, Condliffe, Alison M., additional, Ehl, Stephan, additional, Seidel, Markus G., additional, Seppänen, Mikko R.J., additional, Gennery, Andrew, additional, Kanariou, Maria G., additional, Tantou, Sofia, additional, Grigoriadou, Sofia, additional, Cericola, Gabriella, additional, Hanitsch, Leif G., additional, Scheibenbogen, Carmen, additional, Hlaváčková, Eva O., additional, Krivan, Gergely, additional, McGuire, Frances K., additional, Leahy, Timothy Ronan, additional, Edgar, John David M., additional, Bakhtiar, Shahrzad, additional, Bader, Peter, additional, Rohner, Geraldine Blanchard, additional, Haerynck, Filomeen, additional, Claes, Karlien, additional, Lehmberg, Kai, additional, Müller, Ingo, additional, Farmand, Susan, additional, Fasshauer, Maria, additional, Graf, Dagmar, additional, Neves, Joao Farela, additional, Kostyuchenko, Larysa, additional, Gonzalez-Granado, Luis Ignacio, additional, Jeseňák, Miloš, additional, Carrabba, Maria, additional, Fabio, Giovanna, additional, Pignata, Claudio, additional, Giardino, Giuliana, additional, Karadağ, Ilknur Kökçü, additional, Yıldıran, Alişan, additional, Hancioglu, Gonca, additional, Králíčková, Pavlína, additional, Steinmann, Sandra, additional, Pietrucha, Barbara Maria, additional, Gernert, Michael, additional, Soomann, Maarja, additional, Witte, Torsten, additional, Markocsy, Adam, additional, Wolska-Kusnierz, Beata, additional, Randrianomenjanahary, Philippe, additional, Rouger, Jérémie, additional, Kostaridou, Stavroula, additional, Zabara, Dariia V., additional, Rodina, Yulia A., additional, and Shvets, Oksana A., additional

Published
2023
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13. Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections

Author

Wentink, Marjolein, Dalm, Virgil, Lankester, Arjan C., van Schouwenburg, Pauline A., Schölvinck, Liesbeth, Kalina, Tomas, Zachova, Radana, Sediva, Anna, Lambeck, Annechien, Pico-Knijnenburg, Ingrid, van Dongen, Jacques J.M., Pac, Malgorzata, Bernatowska, Ewa, van Hagen, Martin, Driessen, Gertjan, and van der Burg, Mirjam

Published
2017
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15. Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021

Author

Abolhassani, Hassan, primary, Avcin, Tadej, additional, Bahceciler, Nerin, additional, Balashov, Dmitry, additional, Bata, Zsuzsanna, additional, Bataneant, Mihaela, additional, Belevtsev, Mikhail, additional, Bernatowska, Ewa, additional, Bidló, Judit, additional, Blazsó, Péter, additional, Boisson, Bertrand, additional, Bolkov, Mikhail, additional, Bondarenko, Anastasia, additional, Boyarchuk, Oksana, additional, Bundschu, Anna, additional, Casanova, Jean-Laurent, additional, Chernishova, Liudmyla, additional, Ciznar, Peter, additional, Csürke, Ildikó, additional, Erdős, Melinda, additional, Farkas, Henriette, additional, Fomina, Daria S., additional, Galal, Nermeen, additional, Goda, Vera, additional, Guner, Sukru Nail, additional, Hauser, Péter, additional, Ilyina, Natalya I., additional, Iremadze, Teona, additional, Iritsyan, Sevan, additional, Ismaili-Jaha, Vlora, additional, Jesenak, Milos, additional, Kelecic, Jadranka, additional, Keles, Sevgi, additional, Kindle, Gerhard, additional, Kondratenko, Irina V., additional, Kostyuchenko, Larysa, additional, Kovzel, Elena, additional, Kriván, Gergely, additional, Kuli-Lito, Georgina, additional, Kumánovics, Gábor, additional, Kurjane, Natalja, additional, Latysheva, Elena A., additional, Latysheva, Tatiana V., additional, Lázár, István, additional, Markelj, Gasper, additional, Markovic, Maja, additional, Maródi, László, additional, Mammadova, Vafa, additional, Medvecz, Márta, additional, Miltner, Noémi, additional, Mironska, Kristina, additional, Modell, Fred, additional, Modell, Vicki, additional, Mosdósi, Bernadett, additional, Mukhina, Anna A., additional, Murdjeva, Marianna, additional, Műzes, Györgyi, additional, Nabieva, Umida, additional, Nasrullayeva, Gulnara, additional, Naumova, Elissaveta, additional, Nagy, Kálmán, additional, Onozó, Beáta, additional, Orozbekova, Bubusaira, additional, Pac, Malgorzata, additional, Pagava, Karaman, additional, Pampura, Alexander N., additional, Pasic, Srdjan, additional, Petrosyan, Mery, additional, Petrovic, Gordana, additional, Pocek, Lidija, additional, Prodeus, Andrei P., additional, Reisli, Ismail, additional, Ress, Krista, additional, Rezaei, Nima, additional, Rodina, Yulia A., additional, Rumyantsev, Alexander G., additional, Sciuca, Svetlana, additional, Sediva, Anna, additional, Serban, Margit, additional, Sharapova, Svetlana, additional, Shcherbina, Anna, additional, Sitkauskiene, Brigita, additional, Snimshchikova, Irina, additional, Spahiu-Konjusha, Shqipe, additional, Szolnoky, Miklós, additional, Szűcs, Gabriella, additional, Toplak, Natasa, additional, Tóth, Beáta, additional, Tsyvkina, Galina, additional, Tuzankina, Irina, additional, Vlasova, Elena, additional, and Volokha, Alla, additional

Published
2022
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16. Lack of relationship between 25-hydoxyvitamin D concentration and a titer of antibodies to hepatitis B surface antigen in children under 12 years of age

Author

Dabrowska-Leonik, Nel, primary, Sawicka-Powierza, Jolanta, additional, Bernatowska, Ewa, additional, Pac, Malgorzata, additional, Bernat-Sitarz, Katarzyna, additional, Heropolitanska-Pliszka, Edyta, additional, Pietrucha, Barbara, additional, WolskaKusnierz, Beata, additional, Lewandowicz-Uszynska, Aleksandra, additional, and Mikoluc, Bozena, additional

Published
2022
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17. Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation

Author

Dabrowska-Leonik, Nel, primary, Pastorczak, Agata Karolina, additional, Bąbol-Pokora, Katarzyna, additional, Bernat-Sitarz, Katarzyna, additional, Piątosa, Barbara, additional, Heropolitańska-Pliszka, Edyta, additional, Kacprzak, Magdalena M., additional, Kalwak, Krzysztof, additional, Gul, Katarzyna, additional, Burg, Mirjam van der, additional, Ussowicz, Marek, additional, and Pac, Malgorzata, additional

Published
2022
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18. Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency

Author

Yang, Linlin, primary, Booth, Claire, additional, Speckmann, Carsten, additional, Seidel, Markus G., additional, Worth, Austen J.J., additional, Kindle, Gerhard, additional, Lankester, Arjan C., additional, Grimbacher, Bodo, additional, Gennery, Andrew R., additional, Seppanen, Mikko R.J., additional, Morris, Emma C., additional, Burns, Siobhan O., additional, Sediva, Anna, additional, Neven, Benedicte, additional, Hauck, Fabian, additional, Warnatz, Klaus, additional, Pac, Malgorzata, additional, Carrabba, Maria, additional, Palacin, Pere, additional, Jandus, Peter, additional, Gardulf, Ann, additional, Mahlaoui, Nizar, additional, Pergent, Martine, additional, Schutz, Catharina, additional, Sharapova, Svetlana, additional, Vassilios, Lougaris, additional, Candotti, Fabio, additional, and Volpi, Stephano, additional

Published
2022
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19. Thymus transplantation for complete DiGeorge syndrome: European experience

Author

Davies, Graham E., Cheung, Melissa, Gilmour, Kimberly, Maimaris, Jesmeen, Curry, Joe, Furmanski, Anna, Sebire, Neil, Halliday, Neil, Mengrelis, Konstantinos, Adams, Stuart, Bernatoniene, Jolanta, Bremner, Ronald, Browning, Michael, Devlin, Blythe, Erichsen, Hans Christian, Gaspar, Bobby H., Hutchison, Lizzie, Ip, Winnie, Ifversen, Marianne, Leahy, Ronan T., McCarthy, Elizabeth, Moshous, Despina, Neuling, Kim, Pac, Malgorzata, Papadopol, Alina, Parsley, Kathryn L., Poliani, Luigi, Ricciardelli, Ida, Sansom, David M., Voor, Tiia, Worth, Austen, Crompton, Tessa, Markert, Louise M., and Thrasher, Adrian J.

Published
2017
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21. EuroFlow standardized approach to diagnostic immunopheneotyping of severe PID in newborns and young children

Author

Charles University (Czech Republic), Ministry of Education, Youth and Sports (Czech Republic), Ministry of Health of the Czech Republic, Fundación Mutua Madrileña, European Commission, Kalina, Tomas, Bakardjieva, Marina, Blom, Maartje, Pérez-Andrés, Martin, Barendregt, Barbara, Kanderová, Veronika, Bonroy, C., Philippé, J., Blanco, Elena, Pico-Knijnenburg, Ingrid, Paping, Jitse H. M. P., Wolska-Kuśnierz, Beata, Pac, Malgorzata, Tkazcyk, Jakub, Haerynck, Filomeen, Akar, Himen Haluk, Formánková, Renata, Freiberger, Tomáš, Svatoň, Michael, Šedivá, Anna, Arriba-Méndez, Sonia, Orfao, Alberto, Dongen, J. J. M. van, Burg, Mirjam van der, Charles University (Czech Republic), Ministry of Education, Youth and Sports (Czech Republic), Ministry of Health of the Czech Republic, Fundación Mutua Madrileña, European Commission, Kalina, Tomas, Bakardjieva, Marina, Blom, Maartje, Pérez-Andrés, Martin, Barendregt, Barbara, Kanderová, Veronika, Bonroy, C., Philippé, J., Blanco, Elena, Pico-Knijnenburg, Ingrid, Paping, Jitse H. M. P., Wolska-Kuśnierz, Beata, Pac, Malgorzata, Tkazcyk, Jakub, Haerynck, Filomeen, Akar, Himen Haluk, Formánková, Renata, Freiberger, Tomáš, Svatoň, Michael, Šedivá, Anna, Arriba-Méndez, Sonia, Orfao, Alberto, Dongen, J. J. M. van, and Burg, Mirjam van der

Abstract

The EuroFlow PID consortium developed a set of flow cytometry tests for evaluation of patients with suspicion of primary immunodeficiency (PID). In this technical report we evaluate the performance of the SCID-RTE tube that explores the presence of recent thymic emigrants (RTE) together with T-cell activation status and maturation stages and discuss its applicability in the context of the broader EuroFlow PID flow cytometry testing algorithm for diagnostic orientation of PID of the lymphoid system. We have analyzed peripheral blood cells of 26 patients diagnosed between birth and 2 years of age with a genetically defined primary immunodeficiency disorder: 15 severe combined immunodeficiency (SCID) patients had disease-causing mutations in RAG1 or RAG2 (n = 4, two of them presented with Omenn syndrome), IL2RG (n = 4, one of them with confirmed maternal engraftment), NHEJ1 (n = 1), CD3E (n = 1), ADA (n = 1), JAK3 (n = 3, two of them with maternal engraftment) and DCLRE1C (n = 1) and 11 other PID patients had diverse molecular defects [ZAP70 (n = 1), WAS (n = 2), PNP (n = 1), FOXP3 (n = 1), del22q11.2 (DiGeorge n = 4), CDC42 (n = 1) and FAS (n = 1)]. In addition, 44 healthy controls in the same age group were analyzed using the SCID-RTE tube in four EuroFlow laboratories using a standardized 8-color approach. RTE were defined as CD62L+CD45RO-HLA-DR-CD31+ and the activation status was assessed by the expression of HLA-DR+. Naïve CD8+ T-lymphocytes and naïve CD4+ T-lymphocytes were defined as CD62L+CD45RO-HLA-DR-. With the SCID-RTE tube, we identified patients with PID by low levels or absence of RTE in comparison to controls as well as low levels of naïve CD4+ and naïve CD8+ lymphocytes. These parameters yielded 100% sensitivity for SCID. All SCID patients had absence of RTE, including the patients with confirmed maternal engraftment or oligoclonally expanded T-cells characteristic for Omenn syndrome. Another dominant finding was the increased numbers of activated CD4+H

Published
2020

22. Systemic Redox Imbalance in Patients with Chronic Granulomatous Disease

Author

Heropolitanska-Pliszka, Edyta, primary, Berk, Klaudia, additional, Maciejczyk, Mateusz, additional, Sawicka-Powierza, Jolanta, additional, Bernatowska, Ewa, additional, Wolska-Kusnierz, Beata, additional, Pac, Malgorzata, additional, Dabrowska-Leonik, Nel, additional, Piatosa, Barbara, additional, Lewandowicz-Uszynska, Aleksandra, additional, Karpinska, Joanna, additional, Zalewska, Anna, additional, and Mikoluc, Bozena, additional

Published
2020
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23. EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children

Author

Kalina, Tomas, primary, Bakardjieva, Marina, additional, Blom, Maartje, additional, Perez-Andres, Martin, additional, Barendregt, Barbara, additional, Kanderová, Veronika, additional, Bonroy, Carolien, additional, Philippé, Jan, additional, Blanco, Elena, additional, Pico-Knijnenburg, Ingrid, additional, Paping, Jitse H. M. P., additional, Wolska-Kuśnierz, Beata, additional, Pac, Malgorzata, additional, Tkazcyk, Jakub, additional, Haerynck, Filomeen, additional, Akar, Himmet Haluk, additional, Formánková, Renata, additional, Freiberger, Tomáš, additional, Svatoň, Michael, additional, Šedivá, Anna, additional, Arriba-Méndez, Sonia, additional, Orfao, Alberto, additional, van Dongen, Jacques J. M., additional, and van der Burg, Mirjam, additional

Published
2020
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25. Rpsamutations in isolated congenital asplenia (ICA): A ribosomopathy unveiled

Author

Bosch, Barbara, Bolze, Alexandre, Bertrand Boisson, Antipenko, Alexander, Itan, Yuval, Copley, Richard, Sackstein, Paul, Kini, Usha, Pollard, Andrew, Kumararatne, Dinakantha, Pac, Malgorzata, Bernuth, Horst, Selleri, Licia, Puel, Anne, Picard, Capucine, Mahlaoui, Nizar, and Casanova, Jean-Laurent

Published
2017

26. Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Author

Bolze, Alexandre, primary, Boisson, Bertrand, additional, Bosch, Barbara, additional, Antipenko, Alexander, additional, Bouaziz, Matthieu, additional, Sackstein, Paul, additional, Chaker-Margot, Malik, additional, Barlogis, Vincent, additional, Briggs, Tracy, additional, Colino, Elena, additional, Elmore, Aurora C., additional, Fischer, Alain, additional, Genel, Ferah, additional, Hewlett, Angela, additional, Jedidi, Maher, additional, Kelecic, Jadranka, additional, Krüger, Renate, additional, Ku, Cheng-Lung, additional, Kumararatne, Dinakantha, additional, Loughlin, Sam, additional, Lefevre-Utile, Alain, additional, Mahlaoui, Nizar, additional, Markus, Susanne, additional, Garcia, Juan-Miguel, additional, Nizon, Mathilde, additional, Oleastro, Matias, additional, Pac, Malgorzata, additional, Picard, Capucine, additional, Pollard, Andrew J., additional, Rodriguez-Gallego, Carlos, additional, Thomas, Caroline, additional, Von Bernuth, Horst, additional, Worth, Austen, additional, Meyts, Isabelle, additional, Risolino, Maurizio, additional, Selleri, Licia, additional, Puel, Anne, additional, Klinge, Sebastian, additional, Abel, Laurent, additional, and Casanova, Jean-Laurent, additional

Published
2018
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30. Comparison of Selected Parameters of Redox Homeostasis in Patients with Ataxia-Telangiectasia and Nijmegen Breakage Syndrome

Author

Pietrucha, Barbara, primary, Heropolitanska-Pliszka, Edyta, additional, Maciejczyk, Mateusz, additional, Car, Halina, additional, Sawicka-Powierza, Jolanta, additional, Motkowski, Radosław, additional, Karpinska, Joanna, additional, Hryniewicka, Marta, additional, Zalewska, Anna, additional, Pac, Malgorzata, additional, Wolska-Kusnierz, Beata, additional, Bernatowska, Ewa, additional, and Mikoluc, Bozena, additional

Published
2017
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32. Europe immunoglobulin map

Author

Šedivá, A, Chapel, H., Gardulf, A., Wolf, Hermann, Förster Waldl, Elisabeth, Belevtsev, Michail, Meyts, Isabelle, Mulaosmanović, Velma, Naumova, Elisaveta, Kelecic, Jadranka, Litzman, Jiří, Heilmann, Carsten, Velbri, Sirje, Seppänen, Mikko, Oksenhendler, Eric, Warnatz, Klaus, Kanariou, Maria, Maródi, László, Lúdvíksson, Björn R., Keogan, Mary, Quinti, Isabella, Prokofjeva, Tatjana, Duobiene, Rasa, Hentges, François, Mironska, Kristina, Vries, Esther de, Fevang, Borre, Pac, Malgorzata, Kowalczyk, Danuta, Silva, Susana Lopes da, Bataneant, Mihaela, Alexis, Cochino, Shcherbina, Anna, Tuzankina, Irina, Koruga, Dragana, Ciznar, Peter, Avcin, Tadej, Español, Teresa, Gardulf, Ann, Hoernes, Miriam, Chapel, Helen, and Reisli, Ismail

Subjects
Infusions, Subcutaneous, Immunology, Immunization, Passive, Immunologic Deficiency Syndromes, Immunoglobulins, Immunoglobulins, Intravenous, Passive, Infusions, Subcutaneous, Europe, Poster Presentations, Humans, Immunology and Allergy, Immunization, Intravenous
Published
2014

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