Chronic granulomatous disease: the European experience
van den Berg, J Merlijn, van Koppen, Elsbeth, Ahlin, Anders, Belohradsky, Bernd H, Bernatowska, Ewa, Corbeel, Lucien, Español, Teresa, Fischer, Alain, Kurenko-Deptuch, Magdalena, Mouy, Richard, Petropoulou, Theoni, Roesler, Joachim, Seger, Reinhard, Stasia, Marie-José, Valerius, Niels H, Weening, Ron S, Wolach, Baruch, Roos, Dirk, Kuijpers, Taco W
Published in PloS one (21.04.2009)
Published in PloS one (21.04.2009)
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The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency
Gámez-Díaz, Laura, MSc, August, Dietrich, cand. MD, Stepensky, Polina, MD, Revel-Vilk, Shoshana, MD, MSc, Seidel, Markus G., MD, Noriko, Mitsuiki, MD, Morio, Tomohiro, MD, PhD, Worth, Austen J.J., MD, PhD, Blessing, Jacob, MD, PhD, Van de Veerdonk, Frank, MD, PhD, Feuchtinger, Tobias, MD, Kanariou, Maria, MD, PhD, Schmitt-Graeff, Annette, MD, Jung, Sophie, DD, PhD, Seneviratne, Suranjith, MD, PhD, Burns, Siobhan, MD, Belohradsky, Bernd H., MD, Rezaei, Nima, MD, PhD, Bakhtiar, Shahrzad, MD, Speckmann, Carsten, MD, Jordan, Michael, MD, Grimbacher, Bodo, MD
Published in Journal of allergy and clinical immunology (01.01.2016)
Published in Journal of allergy and clinical immunology (01.01.2016)
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Efficacy of Gene Therapy for X-Linked Severe Combined Immunodeficiency
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Published in The New England journal of medicine (22.07.2010)
Published in The New England journal of medicine (22.07.2010)
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ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia
McCarl, Christie-Ann, BS, Picard, Capucine, MD, PhD, Khalil, Sara, BS, Kawasaki, Takumi, PhD, Röther, Jens, Papolos, Alexander, BS, Kutok, Jeffery, MD, Hivroz, Claire, PhD, LeDeist, Francoise, MD, PhD, Plogmann, Katrin, DMD, Ehl, Stephan, MD, Notheis, Gundula, MD, Albert, Michael H., MD, Belohradsky, Bernd H., MD, Kirschner, Janbernd, MD, Rao, Anjana, PhD, Fischer, Alain, MD, Feske, Stefan, MD
Published in Journal of allergy and clinical immunology (01.12.2009)
Published in Journal of allergy and clinical immunology (01.12.2009)
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Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1
Hacein-Bey-Abina, Salima, Garrigue, Alexandrine, Wang, Gary P, Soulier, Jean, Lim, Annick, Morillon, Estelle, Clappier, Emmanuelle, Caccavelli, Laure, Delabesse, Eric, Beldjord, Kheira, Asnafi, Vahid, MacIntyre, Elizabeth, Dal Cortivo, Liliane, Radford, Isabelle, Brousse, Nicole, Sigaux, François, Moshous, Despina, Hauer, Julia, Borkhardt, Arndt, Belohradsky, Bernd H, Wintergerst, Uwe, Velez, Maria C, Leiva, Lily, Sorensen, Ricardo, Wulffraat, Nicolas, Blanche, Stéphane, Bushman, Frederic D, Fischer, Alain, Cavazzana-Calvo, Marina
Published in The Journal of clinical investigation (01.09.2008)
Published in The Journal of clinical investigation (01.09.2008)
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Hematologically important mutations: Leukocyte adhesion deficiency (first update)
van de Vijver, Edith, Maddalena, Anne, Sanal, Özden, Holland, Steven M., Uzel, Gulbu, Madkaikar, Manisha, de Boer, Martin, van Leeuwen, Karin, Köker, M. Yavuz, Parvaneh, Nima, Fischer, Alain, Law, S.K. Alex, Klein, Nigel, Tezcan, F. Ilhan, Unal, Ekrem, Patiroglu, Turkan, Belohradsky, Bernd H., Schwartz, Klaus, Somech, Raz, Kuijpers, Taco W., Roos, Dirk
Published in Blood cells, molecules, & diseases (15.01.2012)
Published in Blood cells, molecules, & diseases (15.01.2012)
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Severe glucose-6-phosphate dehydrogenase deficiency leads to susceptibility to infection and absent NETosis
Siler, Ulrich, PhD, Romao, Susana, PhD, Tejera, Emilio, PhD, Pastukhov, Oleksandr, PhD, Kuzmenko, Elena, PhD, Valencia, Rocio G., PhD, Spaccamela, Virginia Meda, MD, Belohradsky, Bernd H., MD, Speer, Oliver, PhD, Schmugge, Markus, MD, Kohne, Elisabeth, MD, Hoenig, Manfred, MD, Freihorst, Joachim, MD, Schulz, Ansgar S., MD, Reichenbach, Janine, MD
Published in Journal of allergy and clinical immunology (01.01.2017)
Published in Journal of allergy and clinical immunology (01.01.2017)
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Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study
Güngör, Tayfun, Dr, Teira, Pierre, MD, Slatter, Mary, MBChB, Stussi, Georg, MD, Stepensky, Polina, MD, Moshous, Despina, MD, Vermont, Clementien, MD, Ahmad, Imran, MD, Shaw, Peter J, FRACP, da Cunha, José Marcos Telles, MD, Schlegel, Paul G, MD, Hough, Rachel, MD, Fasth, Anders, Prof, Kentouche, Karim, MD, Gruhn, Bernd, MD, Fernandes, Juliana F, MD, Lachance, Silvy, FRCP, Bredius, Robbert, MD, Resnick, Igor B, MD, Belohradsky, Bernd H, Prof, Gennery, Andrew, MD, Fischer, Alain, Prof, Gaspar, H Bobby, Prof, Schanz, Urs, MD, Seger, Reinhard, MD, Rentsch, Katharina, PhD, Veys, Paul, FRCP, Haddad, Elie, MD, Albert, Michael H, MD, Hassan, Moustapha, Prof
Published in The Lancet (British edition) (01.02.2014)
Published in The Lancet (British edition) (01.02.2014)
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Efficacy and safety of trimodulin, a novel polyclonal antibody preparation, in patients with severe community-acquired pneumonia: a randomized, placebo-controlled, double-blind, multicenter, phase II trial (CIGMA study)
Welte, Tobias, Dellinger, R. Phillip, Ebelt, Henning, Ferrer, Miguel, Opal, Steven M., Singer, Mervyn, Vincent, Jean-Louis, Werdan, Karl, Martin-Loeches, Ignacio, Almirall, Jordi, Artigas, Antonio, Ignacio Ayestarán, Jose, Nuding, Sebastian, Ferrer, Ricard, Sirgo Rodríguez, Gonzalo, Shankar-Hari, Manu, Álvarez-Lerma, Francisco, Riessen, Reimer, Sirvent, Josep-Maria, Kluge, Stefan, Zacharowski, Kai, Bonastre Mora, Juan, Lapp, Harald, Wöbker, Gabriele, Achtzehn, Ute, Brealey, David, Kempa, Axel, Sánchez García, Miguel, Brederlau, Jörg, Kochanek, Matthias, Reschreiter, Henrik Peer, Wise, Matthew P., Belohradsky, Bernd H., Bobenhausen, Iris, Dälken, Benjamin, Dubovy, Patrick, Langohr, Patrick, Mayer, Monika, Schüttrumpf, Jörg, Wartenberg-Demand, Andrea, Wippermann, Ulrike, Wolf, Daniele, Torres, Antoni
Published in Intensive care medicine (01.04.2018)
Published in Intensive care medicine (01.04.2018)
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Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis
Schimke, Lena F., MD, Sawalle-Belohradsky, Julie, Roesler, Joachim, MD, Wollenberg, Andreas, MD, Rack, Anita, MD, Borte, Michael, MD, Rieber, Nikolaus, MD, Cremer, Reinhold, MD, Maaß, Eberhart, MD, Dopfer, Roland, MD, Reichenbach, Janine, MD, Wahn, Volker, MD, Hoenig, Manfred, MD, Jansson, Annette F., MD, Roesen-Wolff, Angela, MD, Schaub, Bianca, MD, Seger, Reinhard, MD, Hill, Harry R., MD, Ochs, Hans D., MD, Torgerson, Troy R., MD, PhD, Belohradsky, Bernd H., MD, Renner, Ellen D., MD
Published in Journal of allergy and clinical immunology (01.09.2010)
Published in Journal of allergy and clinical immunology (01.09.2010)
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Comèl-Netherton syndrome defined as primary immunodeficiency
Renner, Ellen D., MD, Hartl, Dominik, MD, Rylaarsdam, Stacey, AAS, Young, Marguerite L., BS, Monaco-Shawver, Linda, BA, Kleiner, Gary, MD, Markert, M. Louise, MD, Stiehm, E. Richard, MD, Belohradsky, Bernd H., MD, Upton, Melissa P., MD, Torgerson, Troy R., MD, PhD, Orange, Jordan S., MD, PhD, Ochs, Hans D., MD
Published in Journal of allergy and clinical immunology (01.09.2009)
Published in Journal of allergy and clinical immunology (01.09.2009)
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Human Tyrosine Kinase 2 Deficiency Reveals Its Requisite Roles in Multiple Cytokine Signals Involved in Innate and Acquired Immunity
Minegishi, Yoshiyuki, Saito, Masako, Morio, Tomohiro, Watanabe, Ken, Agematsu, Kazunaga, Tsuchiya, Shigeru, Takada, Hidetoshi, Hara, Toshiro, Kawamura, Nobuaki, Ariga, Tadashi, Kaneko, Hideo, Kondo, Naomi, Tsuge, Ikuya, Yachie, Akihiro, Sakiyama, Yukio, Iwata, Tsutomu, Bessho, Fumio, Ohishi, Tsutomu, Joh, Kosuke, Imai, Kohsuke, Kogawa, Kazuhiro, Shinohara, Miwa, Fujieda, Mikiya, Wakiguchi, Hiroshi, Pasic, Srdjan, Abinun, Mario, Ochs, Hans D., Renner, Eleonore D., Jansson, Annette, Belohradsky, Bernd H., Metin, Ayse, Shimizu, Norio, Mizutani, Shuki, Miyawaki, Toshio, Nonoyama, Shigeaki, Karasuyama, Hajime
Published in Immunity (Cambridge, Mass.) (01.11.2006)
Published in Immunity (Cambridge, Mass.) (01.11.2006)
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Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency
Mizesko, Melissa C., MD, Banerjee, Pinaki P., PhD, Monaco-Shawver, Linda, BA, Mace, Emily M., PhD, Bernal, William E., MD, Sawalle-Belohradsky, Julie, Belohradsky, Bernd H., MD, Heinz, Valerie, Freeman, Alexandra F., MD, Sullivan, Kathleen E., MD, PhD, Holland, Steven M., MD, Torgerson, Troy R., MD, PhD, Al-Herz, Waleed, MD, Chou, Janet, MD, Hanson, Imelda C., MD, Albert, Michael H., MD, Geha, Raif S., MD, Renner, Ellen D., MD, Orange, Jordan S., MD, PhD
Published in Journal of allergy and clinical immunology (01.03.2013)
Published in Journal of allergy and clinical immunology (01.03.2013)
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Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome
Renner, Ellen D., Rylaarsdam, Stacey, Aňover-Sombke, Stephanie, Rack, Anita L., Reichenbach, Janine, Carey, John C., Zhu, Qili, Jansson, Annette F., Barboza, Julia, Schimke, Lena F., Leppert, Mark F., Getz, Melissa M., Seger, Reinhard A., Hill, Harry R., Belohradsky, Bernd H., Torgerson, Troy R., Ochs, Hans D.
Published in Journal of allergy and clinical immunology (01.07.2008)
Published in Journal of allergy and clinical immunology (01.07.2008)
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X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options
Albert, Michael H., Bittner, Tanja C., Nonoyama, Shigeaki, Notarangelo, Lucia Dora, Burns, Siobhan, Imai, Kohsuke, Espanol, Teresa, Fasth, Anders, Pellier, Isabelle, Strauss, Gabriele, Morio, Tomohiro, Gathmann, Benjamin, Noordzij, Jeroen G., Fillat, Cristina, Hoenig, Manfred, Nathrath, Michaela, Meindl, Alfons, Pagel, Philipp, Wintergerst, Uwe, Fischer, Alain, Thrasher, Adrian J., Belohradsky, Bernd H., Ochs, Hans D.
Published in Blood (22.04.2010)
Published in Blood (22.04.2010)
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Lung disease in STAT3 hyper‐IgE syndrome requires intense therapy
Kröner, Carolin, Neumann, Jens, Ley‐Zaporozhan, Julia, Hagl, Beate, Meixner, Iris, Spielberger, Benedikt D., Dückers, Gregor, Belohradsky, Bernd H., Niehues, Tim, Borte, Michael, Rosenecker, Joseph, Kappler, Matthias, Nährig, Susanne, Reu, Simone, Griese, Matthias, Renner, Ellen D.
Published in Allergy (Copenhagen) (01.09.2019)
Published in Allergy (Copenhagen) (01.09.2019)
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Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome
Renner, Ellen D, Rylaarsdam, Stacey, Anover-Sombke, Stephanie, Rack, Anita L, Reichenbach, Janine, Carey, John C, Zhu, Qili, Jansson, Annette F, Barboza, Julia, Schimke, Lena F, Leppert, Mark F, Getz, Melissa M, Seger, Reinhard A, Hill, Harry R, Belohradsky, Bernd H, Torgerson, Troy R, Ochs, Hans D
Published in Journal of allergy and clinical immunology (01.07.2008)
Published in Journal of allergy and clinical immunology (01.07.2008)
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Common Variable Immunodeficiency Disorders in Children: Delayed Diagnosis Despite Typical Clinical Presentation
Urschel, Simon, MD, Kayikci, Lale, MD, Wintergerst, Uwe, MD, Notheis, Gundula, MD, Jansson, Annette, MD, Belohradsky, Bernd H., MD
Published in The Journal of pediatrics (01.06.2009)
Published in The Journal of pediatrics (01.06.2009)
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Acellular pertussis booster in adolescents induces Th1 and memory CD8+ T cell immune response
Rieber, Nikolaus, Graf, Anna, Hartl, Dominik, Urschel, Simon, Belohradsky, Bernd H, Liese, Johannes
Published in PloS one (08.03.2011)
Published in PloS one (08.03.2011)
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