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1. Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders

Author

Slack, James, Albert, Michael H, Balashov, Dmitry, Belohradsky, Bernd H, Bertaina, Alice, Bleesing, Jack, Booth, Claire, Buechner, Jochen, Buckley, Rebecca H, Ouachée-Chardin, Marie, Deripapa, Elena, Drabko, Katarzyna, Eapen, Mary, Feuchtinger, Tobias, Finocchi, Andrea, Gaspar, H Bobby, Ghosh, Sujal, Gillio, Alfred, Gonzalez-Granado, Luis I, Grunebaum, Eyal, Güngör, Tayfun, Heilmann, Carsten, Helminen, Merja, Higuchi, Kohei, Imai, Kohsuke, Kalwak, Krzysztof, Kanazawa, Nubuo, Karasu, Gülsün, Kucuk, Zeynep Y, Laberko, Alexandra, Lange, Andrzej, Mahlaoui, Nizar, Meisel, Roland, Moshous, D, Muramatsu, Hideki, Parikh, Suhag, Pasic, Srdjan, Schmid, Irene, Schuetz, Catharina, Schulz, Ansgar, Schultz, Kirk R, Shaw, Peter J, Slatter, Mary A, Sykora, Karl-Walter, Tamura, Shinobu, Taskinen, Mervi, Wawer, Angela, Wolska-Kuśnierz, Beata, Cowan, Morton J, Fischer, Alain, and Gennery, Andrew R

Subjects
Rare Diseases, Transplantation, Hematology, Genetics, Cancer, Pediatric, Adolescent, Alleles, Child, Child, Preschool, DNA Breaks, Double-Stranded, DNA Repair, DNA Repair-Deficiency Disorders, Female, Follow-Up Studies, Graft vs Host Disease, Hematopoietic Stem Cell Transplantation, Humans, Infant, Kaplan-Meier Estimate, Male, Mutation, Prognosis, Treatment Outcome, Virus Diseases, Young Adult, Ataxia-telangiectasia, Cernunnos-XLF deficiency, DNA repair disorders, DNA ligase IV deficiency, hematopoietic stem cell transplantation, Nijmegen breakage syndrome, Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies, Stem Cell Transplant for Immunodeficiencies in Europe, Center for International Blood and Marrow Transplant Research, Primary Immunodeficiency Treatment Consortium, Immunology, Allergy
Abstract

BackgroundRare DNA breakage repair disorders predispose to infection and lymphoreticular malignancies. Hematopoietic cell transplantation (HCT) is curative, but coadministered chemotherapy or radiotherapy is damaging because of systemic radiosensitivity. We collected HCT outcome data for Nijmegen breakage syndrome, DNA ligase IV deficiency, Cernunnos-XRCC4-like factor (Cernunnos-XLF) deficiency, and ataxia-telangiectasia (AT).MethodsData from 38 centers worldwide, including indication, donor, conditioning regimen, graft-versus-host disease, and outcome, were analyzed. Conditioning was classified as myeloablative conditioning (MAC) if it contained radiotherapy or alkylators and reduced-intensity conditioning (RIC) if no alkylators and/or 150 mg/m2 fludarabine or less and 40 mg/kg cyclophosphamide or less were used.ResultsFifty-five new, 14 updated, and 18 previously published patients were analyzed. Median age at HCT was 48 months (range, 1.5-552 months). Twenty-nine patients underwent transplantation for infection, 21 had malignancy, 13 had bone marrow failure, 13 received pre-emptive transplantation, 5 had multiple indications, and 6 had no information. Twenty-two received MAC, 59 received RIC, and 4 were infused; information was unavailable for 2 patients. Seventy-three of 77 patients with DNA ligase IV deficiency, Cernunnos-XLF deficiency, or Nijmegen breakage syndrome received conditioning. Survival was 53 (69%) of 77 and was worse for those receiving MAC than for those receiving RIC (P = .006). Most deaths occurred early after transplantation, suggesting poor tolerance of conditioning. Survival in patients with AT was 25%. Forty-one (49%) of 83 patients experienced acute GvHD, which was less frequent in those receiving RIC compared with those receiving MAC (26/56 [46%] vs 12/21 [57%], P = .45). Median follow-up was 35 months (range, 2-168 months). No secondary malignancies were reported during 15 years of follow-up. Growth and developmental delay remained after HCT; immune-mediated complications resolved.ConclusionRIC HCT resolves DNA repair disorder-associated immunodeficiency. Long-term follow-up is required for secondary malignancy surveillance. Routine HCT for AT is not recommended.

Published
2018

2. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author

Boztug, Kaan, Brunner, Juergen, Demel, Ulrike F., Förster-Waldl, Elisabeth, Gasteiger, Lukas M., Göschl, Lisa, Kojić, Marina, Schroll, Andrea, Seidel, Markus G., Wintergerst, Uwe, Wisgrill, Lukas, Sharapova, Svetlana O., Goffard, Jean-Christophe, Kerre, Tessa, Meyts, Isabelle, Roosens, Fine, Smet, Julie, Haerynck, Filomeen, Eric, Zelimir Pavle, Milenova, Veneta, Gagro, Alenka, Richter, Darko, Chovancova, Zita, Hlavackova, Eva, Litzman, Jiri, Milota, Tomas, Sediva, Anna, Elaziz, Dalia Abd, Alkady, Radwa Salaheldin, El Sayed El Hawary, Rabab, Eldash, Alia S., Galal, Nermeen, Lotfy, Sohilla, Meshaal, Safa S., Reda, Shereen M., Sobh, Ali, Elmarsafy, Aisha, Seppänen, Mikko R.J., Brosselin, Pauline, Courteille, Virginie, De Vergnes, Nathalie, Kracker, Sven, Pergent, Martine, Randrianomenjanahary, Philippe, Ahrenstorf, Gerrit, Albert, Michael H., Ankermann, Tobias, Atschekzei, Faranaz, Baumann, Ulrich, Becker, Benjamin C., Behrends, Uta, Belohradsky, Bernd H., Biegner, Anika-Kerstin, Binder, Nadine, Bode, Sebastian F.N., Boesecke, Christoph, Boetticher, Benedikt, Borte, Michael, Borte, Stephan, Classen, Carl Friedrich, Dirks, Johannes, Dückers, Gregor, El-Helou, Sabine, Ernst, Diana, Fasshauer, Maria, Fecker, Gisela, Felgentreff, Kerstin, Foell, Dirk, Ghosh, Sujal, Girschick, Hermann J., Goldacker, Sigune, Graf, Norbert, Graf, Dagmar, Greil, Johann, Hanitsch, Leif Gunnar, Hauck, Fabian, Heeg, Maximilian, Heine, Sabine I., Henes, Joerg C., Hoenig, Manfred, Holzer, Ursula, Holzinger, Dirk, Horneff, Gerd, Hundsdoerfer, Patrick, Jablonka, Alexandra, Jakoby, Donate, Joean, Oana, Kaiser-Labusch, Petra, Klemann, Christian, Kobbe, Robin, Körholz, Julia, Kramm, Christof M., Krüger, Renate, Landwehr-Kenzel, Sybille, Lehmberg, Kai, Liese, Johannes G., Lippert, Conrad Ferdinand, Maccari, Maria Elena, Masjosthusmann, Katja, Meinhardt, Andrea, Metzler, Markus, Morbach, Henner, Müller, Ingo, Naumann-Bartsch, Nora, Neubert, Jennifer, Niehues, Tim, Peter, Hans-Hartmut, Rieber, Nikolaus, Ritterbusch, Henrike, Rockstroh, Jürgen Kurt, Roesler, Joachim, Schauer, Uwe, Scheible, Raphael, Schmalzing, Marc, Schmidt, Reinhold Ernst, Schneider, Dominik T., Schreiber, Stefan, Schuetz, Catharina, Schulz, Ansgar, Schulze-Koops, Hendrik, Schulze-Sturm, Ulf, Schuster, Volker, Schwaneck, Eva C., Schwarz, Klaus, Schwarze-Zander, Carolynne, Sirin, Mehtap, Skapenko, Alla, Sogkas, Georgios, Sparber-Sauer, Monika, Speckmann, Carsten, Steinmann, Sandra, Stiehler, Sophie, Tenbrock, Klaus, von Bernuth, Horst, Warnatz, Klaus, Wasmuth, Jan-Christian, Weiss, Michael, Witte, Torsten, Wittke, Kirsten, Wittkowski, Helmut, Zeuner, Rainald A., Farmaki, Evangelia, Hatzistilianou, Maria N., Kakkas, Ioannis, Kanariou, Maria G., Kapousouzi, Androniki, Liatsis, Emmanouil, Maggina, Paraskevi, Papadopoulou-Alataki, Efimia, Raptaki, Maria, Speletas, Matthaios, Tantou, Sofia, Goda, Vera, Kriván, Gergely, Marodi, Laszlo, Abolhassani, Hassan, Aghamohammadi, Asghar, Rezaei, Nima, Feighery, Conleth, Leahy, Timothy Ronan, Ryan, Paul, Batzir, Nurit Assia, Garty, Ben Zion, Tamary, Hannah, Aiuti, Alessandro, Amodio, Donato, Azzari, Chiara, Barzaghi, Federica, Baselli, Lucia A., Cancrini, Caterina, Carrabba, Maria, Cazzaniga, Marco, Cesaro, Simone, Chinello, Matteo, Danieli, Maria Giovanna, Dellepiane, Rosa Maria, Fabio, Giovanna, Gambineri, Eleonora, Lodi, Lorenzo, Lougaris, Vassilios, Marasco, Carolina, Martire, Baldassarre, Marzollo, Antonio, Milito, Cinzia, Moschese, Viviana, Pignata, Claudio, Plebani, Alessandro, Porta, Fulvio, Quinti, Isabella, Ricci, Silvia, Soresina, Annarosa, Tommasini, Alberto, Vacca, Angelo, Vanessa, Clementina, Blažienė, Audra, Sitkauskiene, Brigita, Gowin, Ewelina, Heropolitańska-Pliszka, Edyta, Pietrucha, Barbara, Szaflarska, Anna, Więsik-Szewczyk, Ewa, Wolska-Kuśnierz, Beata, Esteves, Isabel, Faria, Emilia, Marques, Laura Hora, Neves, João Farela, Silva, Susana L., Teixeira, Carla, Pereira da Silva, Sara, Capilna, Brindusa Ruxandra, Guseva, Marina N., Shcherbina, Anna, Bobcakova, Anna, Ciznar, Peter, Gabzdilova, Juliana, Jesenak, Milos, Kapustova, Lenka, Orosova, Jaroslava, Petrovicova, Otilia, Raffac, Stefan, Kopač, Peter, Allende, Luis M., Antolí, Arnau, Blanch, Gemma Rocamora, Carbone, Javier, Dieli-Crimi, Romina, Garcia-Prat, Marina, Gil-Herrera, Juana, Gonzalez-Granado, Luis Ignacio, Agulló, Pilar Llobet, Olbrich, Peter, Parra-Martínez, Alba, Paz-Artal, Estela, Pleguezuelo, Daniel E., Rodríguez, Nerea Salmón, Sánchez-Ramón, Silvia, Santos-Pérez, Juan Luis, Solanich, Xavier, Soler-Palacin, Pere, González-Amores, Miriam, Ekwall, Olov, Fasth, Anders, Bitzenhofer-Grüber, Michaela, Candotti, Fabio, Dimitriou, Florentia, Heininger, Ulrich, Holbro, Andreas, Jandus, Peter, Kolios, Antonios G.A., Marschall, Karin, Schmid, Jana Pachlopnik, Posfay-Barbe, Klara M., Prader, Seraina, Reichenbach, Janine, Steiner, Urs C., Trück, Johannes, Bredius, Robbert G., de Kruijf- Bazen, Suzanne, de Vries, Esther, Henriet, Stefanie S.V., Kuijpers, Taco W., Potjewijd, Judith, Rutgers, Abraham, Stol, Kim, van Aerde, Koen J., Van den Berg, J. Merlijn, van de Ven, Annick A.J.M., Montfrans, Jorisvan, Aydemir, Sezin, Baris, Safa, Dogu, Figen, Ikinciogullari, Aydan, Karakoc-Aydiner, Elif, Kilic, Sara S., Kiykim, Ayca, Kökçü Karadağ, Şefika İlknur, Kutukculer, Necil, Ocak, Suheyla, UNAL, Ekrem, Boyarchuk, Oksana, Hilfanova, Anna, Kostyuchenko, Larysa V., Alachkar, Hana, Arkwright, Peter D., Baxendale, Helen E., Bernatoniene, Jolanta, Coulter, Tanya I., Garcez, Tomaz, Goddard, Sarah, Gompels, Mark M., Grigoriadou, Sofia, Herriot, Richard, Herwadkar, Archana, Huissoon, Aarnoud, Ibberson, Lisa, Nademi, Zoreh, Noorani, Sadia, Parvin, Shahnaz, Steele, Cathal Laurence, Thomas, Moira, Waruiru, Catherine, Yong, Patrick F.K., Bourne, Helen, Thalhammer, Julian, Kindle, Gerhard, Nieters, Alexandra, Rusch, Stephan, Fischer, Alain, Grimbacher, Bodo, Edgar, David, Buckland, Matthew, Mahlaoui, Nizar, and Ehl, Stephan

Published
2021
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3. Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency

Author

Aydin, Susanne E., Freeman, Alexandra F., Al-Herz, Waleed, Al-Mousa, Hamoud A., Arnaout, Rand K., Aydin, Roland C., Barlogis, Vincent, Belohradsky, Bernd H., Bonfim, Carmem, Bredius, Robbert G., Chu, Julia I., Ciocarlie, Oana C., Doğu, Figen, Gaspar, Hubert B., Geha, Raif S., Gennery, Andrew R., Hauck, Fabian, Hawwari, Abbas, Hickstein, Dennis D., Hoenig, Manfred, Ikinciogullari, Aydan, Klein, Christoph, Kumar, Ashish, Ifversen, Marianne R.S., Matthes, Susanne, Metin, Ayse, Neven, Benedicte, Pai, Sung-Yun, Parikh, Suhag H., Picard, Capucine, Renner, Ellen D., Sanal, Özden, Schulz, Ansgar S., Schuster, Friedhelm, Shah, Nirali N., Shereck, Evan B., Slatter, Mary A., Su, Helen C., van Montfrans, Joris, Woessmann, Wilhelm, Ziegler, John B., and Albert, Michael H.

Published
2019
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6. 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)

Author

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, and Torres, Antoni

Published
2018
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7. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

Author

Toubiana, Julie, Okada, Satoshi, Hiller, Julia, Oleastro, Matias, Lagos Gomez, Macarena, Aldave Becerra, Juan Carlos, Ouachée-Chardin, Marie, Fouyssac, Fanny, Girisha, Katta Mohan, Etzioni, Amos, Van Montfrans, Joris, Camcioglu, Yildiz, Kerns, Leigh Ann, Belohradsky, Bernd, Blanche, Stéphane, Bousfiha, Aziz, Rodriguez-Gallego, Carlos, Meyts, Isabelle, Kisand, Kai, Reichenbach, Janine, Renner, Ellen D., Rosenzweig, Sergio, Grimbacher, Bodo, van de Veerdonk, Frank L., Traidl-Hoffmann, Claudia, Picard, Capucine, Marodi, Laszlo, Morio, Tomohiro, Kobayashi, Masao, Lilic, Desa, Milner, Joshua D., Holland, Steven, Casanova, Jean-Laurent, and Puel, Anne

Published
2016
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8. The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

Author

Gámez-Díaz, Laura, August, Dietrich, Stepensky, Polina, Revel-Vilk, Shoshana, Seidel, Markus G., Noriko, Mitsuiki, Morio, Tomohiro, Worth, Austen J.J., Blessing, Jacob, Van de Veerdonk, Frank, Feuchtinger, Tobias, Kanariou, Maria, Schmitt-Graeff, Annette, Jung, Sophie, Seneviratne, Suranjith, Burns, Siobhan, Belohradsky, Bernd H., Rezaei, Nima, Bakhtiar, Shahrzad, Speckmann, Carsten, Jordan, Michael, and Grimbacher, Bodo

Published
2016
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9. Disorders of Phagocytic Cells

Author

Rezaei, Nima, Aghamohammadi, Asghar, Albert, Michael H., Belohradsky, Bernd H., Espanol, Teresa, Erdős, Melinda, Klein, Christoph, Maródi, László, Mohammadinejad, Payam, Nicolai, Thomas, Notheis, Gundula, Hedayat, Mona, Pourhamdi, Shabnam, Roesler, Joachim, Rosenzweig, Sergio D., Wintergerst, Uwe, Aghamohammadi, Asghar, editor, and Rezaei, Nima, editor

Published
2012
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10. Clinical picture and treatment of 2212 patients with common variable immunodeficiency

Author

Gathmann, Benjamin, Mahlaoui, Nizar, Gérard, Laurence, Oksenhendler, Eric, Warnatz, Klaus, Schulze, Ilka, Kindle, Gerhard, Kuijpers, Taco W., van Beem, Rachel T., Guzman, David, Workman, Sarita, Soler-Palacín, Pere, De Gracia, Javier, Witte, Torsten, Schmidt, Reinhold E., Litzman, Jiri, Hlavackova, Eva, Thon, Vojtech, Borte, Michael, Borte, Stephan, Kumararatne, Dinakantha, Feighery, Conleth, Longhurst, Hilary, Helbert, Matthew, Szaflarska, Anna, Sediva, Anna, Belohradsky, Bernd H., Jones, Alison, Baumann, Ulrich, Meyts, Isabelle, Kutukculer, Necil, Wågström, Per, Galal, Nermeen Mouftah, Roesler, Joachim, Farmaki, Evangelia, Zinovieva, Natalia, Ciznar, Peter, Papadopoulou-Alataki, Efimia, Bienemann, Kirsten, Velbri, Sirje, Panahloo, Zoya, and Grimbacher, Bodo

Published
2014
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11. Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study

Author

Güngör, Tayfun, Teira, Pierre, Slatter, Mary, Stussi, Georg, Stepensky, Polina, Moshous, Despina, Vermont, Clementien, Ahmad, Imran, Shaw, Peter J, da Cunha, José Marcos Telles, Schlegel, Paul G, Hough, Rachel, Fasth, Anders, Kentouche, Karim, Gruhn, Bernd, Fernandes, Juliana F, Lachance, Silvy, Bredius, Robbert, Resnick, Igor B, Belohradsky, Bernd H, Gennery, Andrew, Fischer, Alain, Gaspar, H Bobby, Schanz, Urs, Seger, Reinhard, Rentsch, Katharina, Veys, Paul, Haddad, Elie, Albert, Michael H, and Hassan, Moustapha

Published
2014
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13. DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients

Author

Aydin, Susanne E., Kilic, Sara Sebnem, Aytekin, Caner, Kumar, Ashish, Porras, Oscar, Kainulainen, Leena, Kostyuchenko, Larysa, Genel, Ferah, Kütükcüler, Necil, Karaca, Neslihan, Gonzalez-Granado, Luis, Abbott, Jordan, Al-Zahrani, Daifulah, Rezaei, Nima, Baz, Zeina, Thiel, Jens, Ehl, Stephan, Marodi, László, Orange, Jordan S., Sawalle-Belohradsky, Julie, Keles, Sevgi, Holland, Steven M., Sanal, Özden, Ayvaz, Deniz C., Tezcan, Ilhan, Al-Mousa, Hamoud, Alsum, Zobaida, Hawwari, Abbas, Metin, Ayse, Matthes-Martin, Susanne, Hönig, Manfred, Schulz, Ansgar, Picard, Capucine, Barlogis, Vincent, Gennery, Andrew, Ifversen, Marianne, van Montfrans, Joris, Kuijpers, Taco, Bredius, Robbert, Dückers, Gregor, Al-Herz, Waleed, Pai, Sung-Yun, Geha, Raif, Notheis, Gundula, Schwarze, Carl-Philipp, Tavil, Betül, Azik, Fatih, Bienemann, Kirsten, Grimbacher, Bodo, Heinz, Valerie, Gaspar, H. Bobby, Aydin, Roland, Hagl, Beate, Gathmann, Benjamin, Belohradsky, Bernd H., Ochs, Hans D., Chatila, Talal, Renner, Ellen D., Su, Helen, Freeman, Alexandra F., Engelhardt, Karin, Albert, Michael H., and On behalf of the inborn errors working party of EBMT

Published
2015
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14. Hematologically important mutations: Leukocyte adhesion deficiency (first update)

Author

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., and Roos, Dirk

Published
2012
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16. Very Early Onset Inflammatory Bowel Disease Associated with Aberrant Trafficking of IL-10R1 and Cure by T Cell Replete Haploidentical Bone Marrow Transplantation

Author

Murugan, Dhaarini, Albert, Michael H., Langemeier, Jörg, Bohne, Jens, Puchalka, Jacek, Järvinen, Päivi M., Hauck, Fabian, Klenk, Anne K., Prell, Christine, Schatz, Stephanie, Diestelhorst, Jana, Sciskala, Barbara, Kohistani, Naschla, Belohradsky, Bernd H., Müller, Susanna, Kirchner, Thomas, Walter, Mark R., Bufler, Philip, Muise, Aleixo M., Snapper, Scott B., Koletzko, Sibylle, Klein, Christoph, and Kotlarz, Daniel

Published
2014
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17. Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children

Author

Hagl, Beate, Heinz, Valerie, Schlesinger, Anne, Spielberger, Benedikt D., Sawalle-Belohradsky, Julie, Senn-Rauh, Monika, Magg, Thomas, Boos, Annette C., Hönig, Manfred, Schwarz, Klaus, Dückers, Gregor, von Bernuth, Horst, Pache, Christoph, Karitnig-Weiss, Cäcilia, Belohradsky, Bernd H., Frank, Josef, Niehues, Tim, Wahn, Volker, Albert, Michael H., Wollenberg, Andreas, Jansson, Annette F., and Renner, Ellen D.

Published
2016
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19. Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis

Author

Schimke, Lena F., Sawalle-Belohradsky, Julie, Roesler, Joachim, Wollenberg, Andreas, Rack, Anita, Borte, Michael, Rieber, Nikolaus, Cremer, Reinhold, Maaß, Eberhart, Dopfer, Roland, Reichenbach, Janine, Wahn, Volker, Hoenig, Manfred, Jansson, Annette F., Roesen-Wolff, Angela, Schaub, Bianca, Seger, Reinhard, Hill, Harry R., Ochs, Hans D., Torgerson, Troy R., Belohradsky, Bernd H., and Renner, Ellen D.

Published
2010
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20. X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

Author

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., and Ochs, Hans D.

Published
2010
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21. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author

Thalhammer, Julian, primary, Kindle, Gerhard, additional, Nieters, Alexandra, additional, Rusch, Stephan, additional, Seppänen, Mikko R.J., additional, Fischer, Alain, additional, Grimbacher, Bodo, additional, Edgar, David, additional, Buckland, Matthew, additional, Mahlaoui, Nizar, additional, Ehl, Stephan, additional, Boztug, Kaan, additional, Brunner, Juergen, additional, Demel, Ulrike F., additional, Förster-Waldl, Elisabeth, additional, Gasteiger, Lukas M., additional, Göschl, Lisa, additional, Kojić, Marina, additional, Schroll, Andrea, additional, Seidel, Markus G., additional, Wintergerst, Uwe, additional, Wisgrill, Lukas, additional, Sharapova, Svetlana O., additional, Goffard, Jean-Christophe, additional, Kerre, Tessa, additional, Meyts, Isabelle, additional, Roosens, Fine, additional, Smet, Julie, additional, Haerynck, Filomeen, additional, Eric, Zelimir Pavle, additional, Milenova, Veneta, additional, Gagro, Alenka, additional, Richter, Darko, additional, Chovancova, Zita, additional, Hlavackova, Eva, additional, Litzman, Jiri, additional, Milota, Tomas, additional, Sediva, Anna, additional, Elaziz, Dalia Abd, additional, Alkady, Radwa Salaheldin, additional, El Sayed El Hawary, Rabab, additional, Eldash, Alia S., additional, Galal, Nermeen, additional, Lotfy, Sohilla, additional, Meshaal, Safa S., additional, Reda, Shereen M., additional, Sobh, Ali, additional, Elmarsafy, Aisha, additional, Brosselin, Pauline, additional, Courteille, Virginie, additional, De Vergnes, Nathalie, additional, Kracker, Sven, additional, Pergent, Martine, additional, Randrianomenjanahary, Philippe, additional, Ahrenstorf, Gerrit, additional, Albert, Michael H., additional, Ankermann, Tobias, additional, Atschekzei, Faranaz, additional, Baumann, Ulrich, additional, Becker, Benjamin C., additional, Behrends, Uta, additional, Belohradsky, Bernd H., additional, Biegner, Anika-Kerstin, additional, Binder, Nadine, additional, Bode, Sebastian F.N., additional, Boesecke, Christoph, additional, Boetticher, Benedikt, additional, Borte, Michael, additional, Borte, Stephan, additional, Classen, Carl Friedrich, additional, Dirks, Johannes, additional, Dückers, Gregor, additional, El-Helou, Sabine, additional, Ernst, Diana, additional, Fasshauer, Maria, additional, Fecker, Gisela, additional, Felgentreff, Kerstin, additional, Foell, Dirk, additional, Ghosh, Sujal, additional, Girschick, Hermann J., additional, Goldacker, Sigune, additional, Graf, Norbert, additional, Graf, Dagmar, additional, Greil, Johann, additional, Hanitsch, Leif Gunnar, additional, Hauck, Fabian, additional, Heeg, Maximilian, additional, Heine, Sabine I., additional, Henes, Joerg C., additional, Hoenig, Manfred, additional, Holzer, Ursula, additional, Holzinger, Dirk, additional, Horneff, Gerd, additional, Hundsdoerfer, Patrick, additional, Jablonka, Alexandra, additional, Jakoby, Donate, additional, Joean, Oana, additional, Kaiser-Labusch, Petra, additional, Klemann, Christian, additional, Kobbe, Robin, additional, Körholz, Julia, additional, Kramm, Christof M., additional, Krüger, Renate, additional, Landwehr-Kenzel, Sybille, additional, Lehmberg, Kai, additional, Liese, Johannes G., additional, Lippert, Conrad Ferdinand, additional, Maccari, Maria Elena, additional, Masjosthusmann, Katja, additional, Meinhardt, Andrea, additional, Metzler, Markus, additional, Morbach, Henner, additional, Müller, Ingo, additional, Naumann-Bartsch, Nora, additional, Neubert, Jennifer, additional, Niehues, Tim, additional, Peter, Hans-Hartmut, additional, Rieber, Nikolaus, additional, Ritterbusch, Henrike, additional, Rockstroh, Jürgen Kurt, additional, Roesler, Joachim, additional, Schauer, Uwe, additional, Scheible, Raphael, additional, Schmalzing, Marc, additional, Schmidt, Reinhold Ernst, additional, Schneider, Dominik T., additional, Schreiber, Stefan, additional, Schuetz, Catharina, additional, Schulz, Ansgar, additional, Schulze-Koops, Hendrik, additional, Schulze-Sturm, Ulf, additional, Schuster, Volker, additional, Schwaneck, Eva C., additional, Schwarz, Klaus, additional, Schwarze-Zander, Carolynne, additional, Sirin, Mehtap, additional, Skapenko, Alla, additional, Sogkas, Georgios, additional, Sparber-Sauer, Monika, additional, Speckmann, Carsten, additional, Steinmann, Sandra, additional, Stiehler, Sophie, additional, Tenbrock, Klaus, additional, von Bernuth, Horst, additional, Warnatz, Klaus, additional, Wasmuth, Jan-Christian, additional, Weiss, Michael, additional, Witte, Torsten, additional, Wittke, Kirsten, additional, Wittkowski, Helmut, additional, Zeuner, Rainald A., additional, Farmaki, Evangelia, additional, Hatzistilianou, Maria N., additional, Kakkas, Ioannis, additional, Kanariou, Maria G., additional, Kapousouzi, Androniki, additional, Liatsis, Emmanouil, additional, Maggina, Paraskevi, additional, Papadopoulou-Alataki, Efimia, additional, Raptaki, Maria, additional, Speletas, Matthaios, additional, Tantou, Sofia, additional, Goda, Vera, additional, Kriván, Gergely, additional, Marodi, Laszlo, additional, Abolhassani, Hassan, additional, Aghamohammadi, Asghar, additional, Rezaei, Nima, additional, Feighery, Conleth, additional, Leahy, Timothy Ronan, additional, Ryan, Paul, additional, Batzir, Nurit Assia, additional, Garty, Ben Zion, additional, Tamary, Hannah, additional, Aiuti, Alessandro, additional, Amodio, Donato, additional, Azzari, Chiara, additional, Barzaghi, Federica, additional, Baselli, Lucia A., additional, Cancrini, Caterina, additional, Carrabba, Maria, additional, Cazzaniga, Marco, additional, Cesaro, Simone, additional, Chinello, Matteo, additional, Danieli, Maria Giovanna, additional, Dellepiane, Rosa Maria, additional, Fabio, Giovanna, additional, Gambineri, Eleonora, additional, Lodi, Lorenzo, additional, Lougaris, Vassilios, additional, Marasco, Carolina, additional, Martire, Baldassarre, additional, Marzollo, Antonio, additional, Milito, Cinzia, additional, Moschese, Viviana, additional, Pignata, Claudio, additional, Plebani, Alessandro, additional, Porta, Fulvio, additional, Quinti, Isabella, additional, Ricci, Silvia, additional, Soresina, Annarosa, additional, Tommasini, Alberto, additional, Vacca, Angelo, additional, Vanessa, Clementina, additional, Blažienė, Audra, additional, Sitkauskiene, Brigita, additional, Gowin, Ewelina, additional, Heropolitańska-Pliszka, Edyta, additional, Pietrucha, Barbara, additional, Szaflarska, Anna, additional, Więsik-Szewczyk, Ewa, additional, Wolska-Kuśnierz, Beata, additional, Esteves, Isabel, additional, Faria, Emilia, additional, Marques, Laura Hora, additional, Neves, João Farela, additional, Silva, Susana L., additional, Teixeira, Carla, additional, Pereira da Silva, Sara, additional, Capilna, Brindusa Ruxandra, additional, Guseva, Marina N., additional, Shcherbina, Anna, additional, Bobcakova, Anna, additional, Ciznar, Peter, additional, Gabzdilova, Juliana, additional, Jesenak, Milos, additional, Kapustova, Lenka, additional, Orosova, Jaroslava, additional, Petrovicova, Otilia, additional, Raffac, Stefan, additional, Kopač, Peter, additional, Allende, Luis M., additional, Antolí, Arnau, additional, Blanch, Gemma Rocamora, additional, Carbone, Javier, additional, Dieli-Crimi, Romina, additional, Garcia-Prat, Marina, additional, Gil-Herrera, Juana, additional, Gonzalez-Granado, Luis Ignacio, additional, Agulló, Pilar Llobet, additional, Olbrich, Peter, additional, Parra-Martínez, Alba, additional, Paz-Artal, Estela, additional, Pleguezuelo, Daniel E., additional, Rodríguez, Nerea Salmón, additional, Sánchez-Ramón, Silvia, additional, Santos-Pérez, Juan Luis, additional, Solanich, Xavier, additional, Soler-Palacin, Pere, additional, González-Amores, Miriam, additional, Ekwall, Olov, additional, Fasth, Anders, additional, Bitzenhofer-Grüber, Michaela, additional, Candotti, Fabio, additional, Dimitriou, Florentia, additional, Heininger, Ulrich, additional, Holbro, Andreas, additional, Jandus, Peter, additional, Kolios, Antonios G.A., additional, Marschall, Karin, additional, Schmid, Jana Pachlopnik, additional, Posfay-Barbe, Klara M., additional, Prader, Seraina, additional, Reichenbach, Janine, additional, Steiner, Urs C., additional, Trück, Johannes, additional, Bredius, Robbert G., additional, de Kruijf- Bazen, Suzanne, additional, de Vries, Esther, additional, Henriet, Stefanie S.V., additional, Kuijpers, Taco W., additional, Potjewijd, Judith, additional, Rutgers, Abraham, additional, Stol, Kim, additional, van Aerde, Koen J., additional, Van den Berg, J. Merlijn, additional, van de Ven, Annick A.J.M., additional, Montfrans, Jorisvan, additional, Aydemir, Sezin, additional, Baris, Safa, additional, Dogu, Figen, additional, Ikinciogullari, Aydan, additional, Karakoc-Aydiner, Elif, additional, Kilic, Sara S., additional, Kiykim, Ayca, additional, Kökçü Karadağ, Şefika İlknur, additional, Kutukculer, Necil, additional, Ocak, Suheyla, additional, UNAL, Ekrem, additional, Boyarchuk, Oksana, additional, Hilfanova, Anna, additional, Kostyuchenko, Larysa V., additional, Alachkar, Hana, additional, Arkwright, Peter D., additional, Baxendale, Helen E., additional, Bernatoniene, Jolanta, additional, Coulter, Tanya I., additional, Garcez, Tomaz, additional, Goddard, Sarah, additional, Gompels, Mark M., additional, Grigoriadou, Sofia, additional, Herriot, Richard, additional, Herwadkar, Archana, additional, Huissoon, Aarnoud, additional, Ibberson, Lisa, additional, Nademi, Zoreh, additional, Noorani, Sadia, additional, Parvin, Shahnaz, additional, Steele, Cathal Laurence, additional, Thomas, Moira, additional, Waruiru, Catherine, additional, Yong, Patrick F.K., additional, and Bourne, Helen, additional

Published
2021
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22. Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes

Author

Salzer, Ulrich, Bacchelli, Chiara, Buckridge, Sylvie, Pan-Hammarström, Qiang, Jennings, Stephanie, Lougaris, Vassilis, Bergbreiter, Astrid, Hagena, Tina, Birmelin, Jennifer, Plebani, Alessandro, Webster, A. David B., Peter, Hans-Hartmut, Suez, Daniel, Chapel, Helen, McLean-Tooke, Andrew, Spickett, Gavin P., Anover-Sombke, Stephanie, Ochs, Hans D., Urschel, Simon, Belohradsky, Bernd H., Ugrinovic, Sanja, Kumararatne, Dinakantha S., Lawrence, Tatiana C., Holm, Are M., Franco, Jose L., Schulze, Ilka, Schneider, Pascal, Gertz, E. Michael, Schäffer, Alejandro A., Hammarström, Lennart, Thrasher, Adrian J., Gaspar, H. Bobby, and Grimbacher, Bodo

Published
2009
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23. A Novel Gain-of-Function IKBA Mutation Underlies Ectodermal Dysplasia with Immunodeficiency and Polyendocrinopathy

Author

Schimke, Lena F., Rieber, Nikolaus, Rylaarsdam, Stacey, Cabral-Marques, Otávio, Hubbard, Nicholas, Puel, Anne, Kallmann, Laura, Sombke, Stephanie Anover, Notheis, Gundula, Schwarz, Hans-Peter, Kammer, Birgit, Hökfelt, Tomas, Repp, Reinald, Picard, Capucine, Casanova, Jean-Laurent, Belohradsky, Bernd H., Albert, Michael H., Ochs, Hans D., Renner, Ellen D., and Torgerson, Troy R.

Published
2013
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24. Lung Parenchyma Surgery in Autosomal Dominant Hyper-IgE Syndrome

Author

Freeman, Alexandra F., Renner, Ellen D., Henderson, Carolyn, Langenbeck, Anne, Olivier, Kenneth N., Hsu, Amy P., Hagl, Beate, Boos, Annette, Davis, Joie, Marciano, Beatriz E., Boris, Lisa, Welch, Pamela, Sawalle-Belohradsky, Julie, Belohradsky, Bernd H., Kwong, King F., and Holland, Steven M.

Published
2013
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26. Contributors

Author

Belohradsky, Bernd H., primary, Berger, Melvin, additional, Bousfiha, Aziz A., additional, Casanova, Jean-Laurent, additional, Cavazzana-Calvo, Marina, additional, Chapel, Helen M., additional, Condino-Neto, Antonio, additional, Cooper, Max D., additional, Cunningham-Rundles, Charlotte, additional, Currier, Robert, additional, de Saint Basile, Geneviève, additional, Demaret, Carol Ann, additional, Durandy, Anne, additional, Engelhardt, Karin R., additional, Etzioni, Amos, additional, Fischer, Alain, additional, Fleisher, Thomas A., additional, Frank, Michael M., additional, Gatti, Richard A., additional, Geha, Raif S., additional, Grimbacher, Bodo, additional, Hacein-Bey-Abina, Salima, additional, Hershfield, Michael S., additional, Hirschhorn, Rochelle, additional, Holland, Steven M., additional, Jeddane, Leila, additional, Kracker, Sven, additional, Leonard, Warren J., additional, McCurdy, Deborah, additional, McDonald-McGinn, Donna M., additional, Meuwissen, Hilaire J., additional, Modell, Fred M., additional, Modell, Vicki M., additional, Notarangelo, Luigi Daniele, additional, Ochs, Hans D., additional, Picard, Capucine, additional, Puck, Jennifer M., additional, Shearer, William T., additional, Smith, C.I. Edvard, additional, Stiehm, E. Richard, additional, Storb, Rainer, additional, Sullivan, Kathleen E., additional, Welte, Karl, additional, and Winkelstein, Jerry A., additional

Published
2014
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29. CXCR2 mediates NADPH oxidase-independent neutrophil extracellular trap formation in cystic fibrosis airway inflammation

Author

Marcos, Veronica, Zhou, Zhe, Yildirim, Ali Onder, Bohla, Alexander, Hector, Andreas, Vitkov, Ljubomir, Wiedenbauer, Eva- Maria, Krautgartner, Wolf Dietrich, Stoiber, Walter, Belohradsky, Bernd H., Rieber, Nikolaus, Kormann, Michael, Koller, Barbara, Roscher, Adelbert, Roos, Dirk, Griese, Matthias, Eickelberg, Oliver, Doring, Gerd, Mall, Marcus A., and Hartl, Dominik

Subjects
DNA -- Physiological aspects -- Health aspects, Cystic fibrosis -- Care and treatment, Neutrophils -- Physiological aspects -- Health aspects, Membrane proteins -- Health aspects -- Physiological aspects, Biological sciences, Health
Abstract

Upon activation, neutrophils release DNA fibers decorated with antimicrobial proteins, forming neutrophil extracellular traps (NETs) (1-3). Although NETs are bactericidal and contribute to innate host defense, excessive NET formation has been linked to the pathogenesis of autoinflammatory diseases (4,5). However, the mechanisms regulating NET formation, particularly during chronic inflammation, are poorly understood. Here we show that the G protein-coupled receptor (GPCR) CXCR2 mediates NET formation. Downstream analyses showed that CXCR2-mediated NET formation was independent of NADPH oxidase and involved Src family kinases. We show the pathophysiological relevance of this mechanism in cystic fibrosis lung disease, characterized by chronic neutrophilic inflammation (6,7). We found abundant NETs in airway fluids of individuals with cystic fibrosis and mouse cystic fibrosis lung disease, and NET amounts correlated with impaired obstructive lung function. Pulmonary blockade of CXCR2 by intra-airway delivery of small-molecule antagonists inhibited NET formation and improved lung function in vivo without affecting neutrophil recruitment, proteolytic activity or antibacterial host defense. These studies establish CXCR2 as a receptor mediating NADPH oxidase-independent NET formation and provide evidence that this GPCR pathway is operative and druggable in cystic fibrosis lung disease., Neutrophils act as first line of host defense against bacteria and fungi (8). The concept that neutrophils kill pathogens exclusively intracellularly by phagocytosis has been challenged by the finding that [...]

Published
2010
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30. Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1

Author

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, Cortivo, Liliane Dal, Radford, Isabelle, Brousse, Nicole, Sigaux, Francois, Moshous, Despina, Hauer, Julia, Borkhardt, Arndt, Belohradsky, Bernd H., Wintergerst, Uwe, Velez, Maria C., Leiva, Lily, Sorensen, Ricardo, Wulffraat, Nicolas, Blanche, Stephane, Bushman, Frederic D., Fischer, Alain, and Cavazzana-Calvo, Marina

Subjects
Carcinogenesis -- Risk factors -- Complications and side effects -- Research, Gene therapy -- Methods -- Complications and side effects -- Research -- Physiological aspects, Retroviruses -- Physiological aspects -- Research -- Methods, Health care industry
Abstract

Previously, several individuals with X-linked SCID (SCID-X1) were treated by gene therapy to restore the missing IL-2 receptor γ (IL2RG) gene to [CD34.sup.+] BM precursor cells using gammaretroviral vectors. While 9 of 10 patients were successfully treated, 4 of the 9 developed T cell leukemia 31-68 months after gene therapy. In 2 of these cases, blast cells contained activating vector insertions near the LIM domain--only 2 (LMO2) proto-oncogene. Here, we report data on the 2 most recent adverse events, which occurred in patients 7 and 10. In patient 10, blast cells contained an integrated vector near LMO2 and a second integrated vector near the proto-oncogene BMI1. In patient 7, blast cells contained an integrated vector near a third proto-oncogene, CCND2. Additional genetic abnormalities in the patients' blast cells included chromosomal translocations, gain-of-function mutations activating NOTCH1, and copy number changes, including deletion of tumor suppressor gene CDKN2A, 6q interstitial losses, and SIL-TAL1 rearrangement. These findings functionally specify a genetic network that controls growth in T cell progenitors. Chemotherapy led to sustained remission in 3 of the 4 cases of T cell leukemia, but failed in the fourth. Successful chemotherapy was associated with restoration of polyclonal transduced T cell populations. As a result, the treated patients continued to benefit from therapeutic gene transfer., Introduction Full correction of genetic diseases has been achieved in 2 forms of SCID, X-linked SCID (SCID-X1; also referred to as common γ chain [γc] deficiency), and adenosine deaminase (ADA) [...]

Published
2008

33. The genotype of the original Wiskott phenotype

Author

Binder, Vera, Albert, Michael H., Kabus, Maria, Bertone, Marko, and Belohradsky, Bernd H.

Subjects
Wiskott-Aldrich syndrome -- Genetic aspects, Wiskott-Aldrich syndrome -- Diagnosis, Wiskott-Aldrich syndrome -- Care and treatment
Abstract

A new frame shift mutation in exon 1 of Wiskott-Aldrich syndrome (WAS) is identified to investigate family members of the patients originally described by Wiskott in 1937. It is reported that the mutation is likely to be the hypothesized genotype that causes the severe form of WAS.

Published
2006

36. Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency

Author

Mizesko, Melissa C., Banerjee, Pinaki P., Monaco-Shawver, Linda, Mace, Emily M., Bernal, William E., Sawalle-Belohradsky, Julie, Belohradsky, Bernd H., Heinz, Valerie, Freeman, Alexandra F., Sullivan, Kathleen E., Holland, Steven M., Torgerson, Troy R., Al-Herz, Waleed, Chou, Janet, Hanson, Imelda C., Albert, Michael H., Geha, Raif S., Renner, Ellen D., and Orange, Jordan S.

Published
2013
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38. Autorinnen und Autoren

Author

Ahrens, Wiebke, primary, Baumann, Michael A., additional, Behrens, Rolf, additional, Belohradsky, Bernd H., additional, Böhles, Hansjosef, additional, Brämswig, Jürgen H., additional, Brandl, Ulrich, additional, Brenner, Rolf E., additional, Brockmeier, Konrad, additional, Büscher, Rainer, additional, Diestelhorst, Michael, additional, Dockter, Gerd, additional, Döpfner, Manfred, additional, Günther Dörr, Helmuth, additional, Eckel, Hans Edmund, additional, Edelmann, Peter, additional, Eifinger, Franz F., additional, Engelmann, Udo H., additional, Fartasch, Manigé, additional, Feist, Dietrich, additional, Gaedicke, Gerhard, additional, Gahr, Manfred, additional, Ganser, Gerd, additional, von Gontard, Alexander, additional, Grosse, Klaus-Peter, additional, Grüters-Kieslich, Annette, additional, Hauffa, Berthold P., additional, Heininger, Ulrich, additional, Herkenrath, Peter, additional, Hofbeck, Michael, additional, Holl, Reinhard W., additional, Holschneider, Alexander M., additional, Hoppe, Bernd, additional, Huppertz, Hans-Iko, additional, Jopp-Petzinna, Gabriele, additional, Kahl-Nieke, Bärbel, additional, Keller, Klaus-Michael, additional, Kirschstein, Martin, additional, Klaus, Günter, additional, Klinge, Lars, additional, Koletzko, Berthold, additional, Koletzko, Sibylle, additional, Konrad, Martin, additional, Korge, Bernhard, additional, Land, Christof, additional, Lauffer, Heinz, additional, Lehmkuhl, Gerd, additional, Lentze, Michael J., additional, Lettgen, Bernhard, additional, Licht, Christoph, additional, Lowden, Esther, additional, Luckhaus, Johannes, additional, Michalk, Dietrich, additional, Müller-Berghaus, Jan, additional, Müller-Wiefel, Dirk E., additional, Naumann, Emil G., additional, Neuhäuser, Gerhard, additional, Nützenadel, Walter, additional, Paditz, Ekkehart, additional, Partsch, Carl-Joachim, additional, Paul, Karl, additional, Pillekamp, Frank, additional, Querfeld, Uwe, additional, Ranke, Michael B., additional, Rascher, Wolfgang, additional, Riedel, Frank, additional, Rietschel, Ernst, additional, Roth, Bernhard, additional, Rüssmann, Walter, additional, Rütt, Jürgen, additional, Schauseil-Zipf, Ulrike, additional, Schönau, Eckhard, additional, Schubert, Elke, additional, Schwahn, Bernd, additional, Schweigerer, Lothar, additional, Seyberth, Hannsjörg W., additional, Simon, Thorsten, additional, Singer, Helmut, additional, Sinnecker, Gernot H.G., additional, Sollberg, Stephan, additional, Sperl, Wolfgang, additional, Sprinzl, Georg Mathias, additional, Streppel, Michael, additional, Sutor†, Anton H., additional, Überall, Michael A., additional, Ulmer, Herbert E., additional, Voit, Thomas, additional, Wabitsch, Martin, additional, Wahn, Ulrich, additional, Waldegger, Siegfried, additional, Walger, Martin, additional, von Wedel, Hasso, additional, von Wedel, Ulla-Christiane, additional, Weiß, Michael, additional, Weißbach, Gerhard, additional, Widemann, Brigitte, additional, Wirth, Stefan, additional, Zöller, Joachim E., additional, and Zuberbier, Torsten, additional

Published
2011
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42. Novel Missense Mutation P.M37K in IKBA Results in Impaired NF-κB Activation Causing Ectodermal Dysplasia with Immunodeficiency and Autoimmune Polyendocrinopathy

Author

Schimke, Lena Friederike, Rieber, Nikolaus, Rylaarsdam, Stacey, Marques, Otavio Cabral, Hubbard, Nicholas, Anover-Sombke, Stephanie, Puel, Anne, Kallmann, Laura, Buckl, Matthias, Notheis, Gundula, Schwarz, Hans-Peter, Hökfelt, Tomas, Repp, Reinald, Picard, Capucine, Belohradsky, Bernd, Albert, Michael H, Ochs, Hans, Renner, Ellen, and Torgerson, Troy R.

Published
2012

45. Efficacy of Gene Therapy for X-Linked Severe Combined Immunodeficiency

Author

Hacein-Bey-Abina, Salima, Hauer, Julia, Lim, Annick, Picard, Capucine, Wang, Gary P., Berry, Charles C., Martinache, Chantal, Rieux-Laucat, Frédéric, Latour, Sylvain, Belohradsky, Bernd H., Leiva, Lily, Sorensen, Ricardo, Debré, Marianne, Casanova, Jean Laurent, Blanche, Stephane, Durandy, Anne, Bushman, Frederic D., Fischer, Alain, and Cavazzana-Calvo, Marina

Published
2010
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48. Genetic linkage of hyper-IgE syndrome to chromosome 4

Author

Grimbacher, Bodo, Schaffer, Alejandro A., Holland, Steven M., Davis, Joie, Gallin, John I., Malech, Harry L., Atkinson, T. Prescott, Belohradsky, Bernd H., Buckley, Rebecca H., Cossu, Fausto, Espanol, Teresa, Garty, Ben-Zion, Matamoros, Nuria, Myers, Laurie A., Nelson, Robert P., Ochs, Hans D., Renner, Eleonore D., Wellinghausen, Nele, and Puck, Jennifer M.

Subjects
Genetic disorders -- Research, Chromosome mapping -- Usage, Bones -- Abnormalities, Dentition -- Abnormalities, Connective tissues -- Abnormalities, Face -- Abnormalities, Immunoglobulin E -- Physiological aspects, Biological sciences
Abstract

Hyper-IgE syndrome (HIES), or Job syndrome, a rare multisystem disorder, a primary immunodeficiency involving pneumonia, recurrent skin abscesses, and very elevated serum IgE levels, is discussed with the information that it is linked to chromosome 4. Nonimmunologic abnormalities of bones, dentition and connective tissue are part of the disorder and it can be transmitted as an autosomal dominant trait with variable espressivity. Nineteen kindreds with multiple cases were scored for laboratory/clinical findings and genotyped with polymorphic markers in a candidate region.

Published
1999

49. Comèl-Netherton syndrome defined as primary immunodeficiency

Author

Renner, Ellen D., Hartl, Dominik, Rylaarsdam, Stacey, Young, Marguerite L., Monaco-Shawver, Linda, Kleiner, Gary, Markert, Louise M., Stiehm, Richard E., Belohradsky, Bernd H., Upton, Melissa P., Torgerson, Troy R., Orange, Jordan S., and Ochs, Hans D.

Published
2009

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