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1. UNC93B1 variants underlie TLR7-dependent autoimmunity

Author

Wolf, Christine, primary, Lim, Ee Lyn, additional, Mokhtari, Mohammad, additional, Kind, Barbara, additional, Odainic, Alexandru, additional, Lara-Villacanas, Eusebia, additional, Koss, Sarah, additional, Mages, Simon, additional, Menzel, Katharina, additional, Engel, Kerstin, additional, Dückers, Gregor, additional, Bernbeck, Benedikt, additional, Schneider, Dominik T., additional, Siepermann, Kathrin, additional, Niehues, Tim, additional, Goetzke, Carl Christoph, additional, Durek, Pawel, additional, Minden, Kirsten, additional, Dörner, Thomas, additional, Stittrich, Anna, additional, Szelinski, Franziska, additional, Guerra, Gabriela Maria, additional, Massoud, Mona, additional, Bieringer, Markus, additional, de Oliveira Mann, Carina C., additional, Beltrán, Eduardo, additional, Kallinich, Tilmann, additional, Mashreghi, Mir-Farzin, additional, Schmidt, Susanne V., additional, Latz, Eicke, additional, Klughammer, Johanna, additional, Majer, Olivia, additional, and Lee-Kirsch, Min Ae, additional

Published
2024
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2. Systemic Lupus Erythematosus due to Gain-of-Function Mutation in UNC93B1

Author

Wolf, Christine, primary, Kind, Barbara, additional, Lim, Ee Lyn, additional, Dückers, Gregor, additional, Koss, Sarah, additional, Engel, Kerstin, additional, Lara-Villacanas, Eusebia, additional, Siepermann, Kathrin, additional, Niehues, Tim, additional, Mann, Carina C. de Oliveira, additional, Latz, Eicke, additional, Majer, Olivia, additional, and Lee-Kirsch, Min Ae, additional

Published
2022
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3. Hyperactivation of TLR-signaling in a family with monogenic systemic lupus erythematosus

Author

Kind, Barbara, Lara-Villacanas, Eusebia, Wolf, Christine, Bernbeck, Benedikt, Siepermann, Kathrin Julia, Niehues, Tim, and Lee-Kirsch, Min Ae

Subjects
ddc: 610, immune system diseases, 610 Medical sciences, Medicine, skin and connective tissue diseases
Abstract

Background: Systemic lupus erythematosus (SLE) is a chronic, multisystem autoimmune disorder with dysregulation of both the innate and the adaptive immune system. Toll-like receptors (TLR) play a key role in SLE pathogenesis. TLRs recognize structures that are broadly shared between pathogens and different[for full text, please go to the a.m. URL], 47. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh), 33. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh), 29. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)

Published
2019

4. The German National Registry of Primary Immunodeficiencies (2012-2017)

Author

El-Helou, Sabine M., Biegner, Anika-Kerstin, Bode, Sebastian, Ehl, Stephan R., Heeg, Maximilian, Maccari, Maria E., Ritterbusch, Henrike, Speckmann, Carsten, Rusch, Stephan, Scheible, Raphael, Warnatz, Klaus, Atschekzei, Faranaz, Beider, Renata, Ernst, Diana, Gerschmann, Stev, Jablonka, Alexandra, Mielke, Gudrun, Schmidt, Reinhold E., Schuermann, Gesine, Sogkas, Georgios, Baumann, Ulrich H., Klemann, Christian, Viemann, Dorothee, von Bernuth, Horst, Krueger, Renate, Hanitsch, Leif G., Scheibenbogen, Carmen M., Wittke, Kirsten, Albert, Michael H., Eichinger, Anna, Hauck, Fabian, Klein, Christoph, Rack-Hoch, Anita, Sollinger, Franz M., Avila, Anne, Borte, Michael, Borte, Stephan, Fasshauer, Maria, Hauenherm, Anja, Kellner, Nils, Mueller, Anna H., Uelzen, Anett, Bader, Peter, Bakhtiar, Shahrzad, Lee, Jae-Yun, Hess, Ursula, Schubert, Ralf, Woelke, Sandra, Zielen, Stefan, Ghosh, Sujal, Laws, Hans-Juergen, Neubert, Jennifer, Oommen, Prasad T., Hoenig, Manfred, Schulz, Ansgar, Steinmann, Sandra, Schwarz, Klaus, Dueckers, Gregor, Lamers, Beate, Langemeyer, Vanessa, Niehues, Tim, Shai, Sonu, Graf, Dagmar, Mueglich, Carmen, Schmalzing, Marc T., Schwaneck, Eva C., Tony, Hans-Peter, Dirks, Johannes, Haase, Gabriele, Liese, Johannes G., Morbach, Henner, Foell, Dirk, Hellige, Antje, Wittkowski, Helmut, Masjosthusmann, Katja, Mohr, Michael, Geberzahn, Linda, Hedrich, Christian M., Mueller, Christiane, Roesen-Wolff, Angela, Roesler, Joachim, Zimmermann, Antje, Behrends, Uta, Rieber, Nikolaus, Schauer, Uwe, Handgretinger, Rupert, Holzer, Ursula, Henes, Joerg, Kanz, Lothar, Boesecke, Christoph, Rockstroh, Juergen K., Schwarze-Zander, Carolynne, Wasmuth, Jan-Christian, Dilloo, Dagmar, Huelsmann, Brigitte, Schoenberger, Stefan, Schreiber, Stefan, Zeuner, Rainald, Ankermann, Tobias, von Bismarck, Philipp, Huppertz, Hans-Iko, Kaiser-Labusch, Petra, Greil, Johann, Jakoby, Donate, Kulozik, Andreas E., Metzler, Markus, Naumann-Bartsch, Nora, Sobik, Bettina, Graf, Norbert, Heine, Sabine, Kobbe, Robin, Lehmberg, Kai, Mueller, Ingo, Herrmann, Friedrich, Horneff, Gerd, Klein, Ariane, Peitz, Joachim, Schmidt, Nadine, Bielack, Stefan, Gross-Wieltsch, Ute, Classen, Carl F., Klasen, Jessica, Deutz, Peter, Kamitz, Dirk, Lassay, Lisa, Tenbrock, Klaus, Wagner, Norbert, Bernbeck, Benedikt, Brummel, Bastian, Lara-Villacanas, Eusebia, Muenstermann, Esther, Schneider, Dominik T., Tietsch, Nadine, Westkemper, Marco, Weiss, Michael, Kramm, Christof, Kuehnle, Ingrid, Kullmann, Silke, Girschick, Hermann, Specker, Christof, Vinnemeier-Laubenthal, Elisabeth, Haenicke, Henriette, Schulz, Claudia, Schweigerer, Lothar, Mueller, Thomas G., Stiefel, Martina, Belohradsky, Bernd H., Soetedjo, Veronika, Kindle, Gerhard, Grimbacher, Bodo, El-Helou, Sabine M., Biegner, Anika-Kerstin, Bode, Sebastian, Ehl, Stephan R., Heeg, Maximilian, Maccari, Maria E., Ritterbusch, Henrike, Speckmann, Carsten, Rusch, Stephan, Scheible, Raphael, Warnatz, Klaus, Atschekzei, Faranaz, Beider, Renata, Ernst, Diana, Gerschmann, Stev, Jablonka, Alexandra, Mielke, Gudrun, Schmidt, Reinhold E., Schuermann, Gesine, Sogkas, Georgios, Baumann, Ulrich H., Klemann, Christian, Viemann, Dorothee, von Bernuth, Horst, Krueger, Renate, Hanitsch, Leif G., Scheibenbogen, Carmen M., Wittke, Kirsten, Albert, Michael H., Eichinger, Anna, Hauck, Fabian, Klein, Christoph, Rack-Hoch, Anita, Sollinger, Franz M., Avila, Anne, Borte, Michael, Borte, Stephan, Fasshauer, Maria, Hauenherm, Anja, Kellner, Nils, Mueller, Anna H., Uelzen, Anett, Bader, Peter, Bakhtiar, Shahrzad, Lee, Jae-Yun, Hess, Ursula, Schubert, Ralf, Woelke, Sandra, Zielen, Stefan, Ghosh, Sujal, Laws, Hans-Juergen, Neubert, Jennifer, Oommen, Prasad T., Hoenig, Manfred, Schulz, Ansgar, Steinmann, Sandra, Schwarz, Klaus, Dueckers, Gregor, Lamers, Beate, Langemeyer, Vanessa, Niehues, Tim, Shai, Sonu, Graf, Dagmar, Mueglich, Carmen, Schmalzing, Marc T., Schwaneck, Eva C., Tony, Hans-Peter, Dirks, Johannes, Haase, Gabriele, Liese, Johannes G., Morbach, Henner, Foell, Dirk, Hellige, Antje, Wittkowski, Helmut, Masjosthusmann, Katja, Mohr, Michael, Geberzahn, Linda, Hedrich, Christian M., Mueller, Christiane, Roesen-Wolff, Angela, Roesler, Joachim, Zimmermann, Antje, Behrends, Uta, Rieber, Nikolaus, Schauer, Uwe, Handgretinger, Rupert, Holzer, Ursula, Henes, Joerg, Kanz, Lothar, Boesecke, Christoph, Rockstroh, Juergen K., Schwarze-Zander, Carolynne, Wasmuth, Jan-Christian, Dilloo, Dagmar, Huelsmann, Brigitte, Schoenberger, Stefan, Schreiber, Stefan, Zeuner, Rainald, Ankermann, Tobias, von Bismarck, Philipp, Huppertz, Hans-Iko, Kaiser-Labusch, Petra, Greil, Johann, Jakoby, Donate, Kulozik, Andreas E., Metzler, Markus, Naumann-Bartsch, Nora, Sobik, Bettina, Graf, Norbert, Heine, Sabine, Kobbe, Robin, Lehmberg, Kai, Mueller, Ingo, Herrmann, Friedrich, Horneff, Gerd, Klein, Ariane, Peitz, Joachim, Schmidt, Nadine, Bielack, Stefan, Gross-Wieltsch, Ute, Classen, Carl F., Klasen, Jessica, Deutz, Peter, Kamitz, Dirk, Lassay, Lisa, Tenbrock, Klaus, Wagner, Norbert, Bernbeck, Benedikt, Brummel, Bastian, Lara-Villacanas, Eusebia, Muenstermann, Esther, Schneider, Dominik T., Tietsch, Nadine, Westkemper, Marco, Weiss, Michael, Kramm, Christof, Kuehnle, Ingrid, Kullmann, Silke, Girschick, Hermann, Specker, Christof, Vinnemeier-Laubenthal, Elisabeth, Haenicke, Henriette, Schulz, Claudia, Schweigerer, Lothar, Mueller, Thomas G., Stiefel, Martina, Belohradsky, Bernd H., Soetedjo, Veronika, Kindle, Gerhard, and Grimbacher, Bodo

Abstract

Introduction: The German PID-NET registry was founded in 2009, serving as the first national registry of patients with primary immunodeficiencies (PID) in Germany. It is part of the European Society for Immunodeficiencies (ESID) registry. The primary purpose of the registry is to gather data on the epidemiology, diagnostic delay, diagnosis, and treatment of PIDs. Methods: Clinical and laboratory data was collected from 2,453 patients from 36 German PID centres in an online registry. Data was analysed with the software Stata((R)) and Excel. Results: The minimum prevalence of PID in Germany is 2.72 per 100,000 inhabitants. Among patients aged 1-25, there was a clear predominance of males. The median age of living patients ranged between 7 and 40 years, depending on the respective PID. Predominantly antibody disorders were the most prevalent group with 57% of all 2,453 PID patients (including 728 CVID patients). A gene defect was identified in 36% of patients. Familial cases were observed in 21% of patients. The age of onset for presenting symptoms ranged from birth to late adulthood (range 0-88 years). Presenting symptoms comprised infections (74%) and immune dysregulation (22%). Ninety-three patients were diagnosed without prior clinical symptoms. Regarding the general and clinical diagnostic delay, no PID had undergone a slight decrease within the last decade. However, both, SCID and hyper IgE-syndrome showed a substantial improvement in shortening the time between onset of symptoms and genetic diagnosis. Regarding treatment, 49% of all patients received immunoglobulin G (IgG) substitution (70%-subcutaneous; 29%-intravenous; 1%-unknown). Three-hundred patients underwent at least one hematopoietic stem cell transplantation (HSCT). Five patients had gene therapy. Conclusion: The German PID-NET registry is a precious tool for physicians, researchers, the pharmaceutical industry, politicians, and ultimately the patients, for whom the outcomes will eventually lead to a m

Published
2019

5. The German national registry of primary immunodeficiencies (2012–2017)

Author

Al-Herz, Waleed, El-Helou, Sabine M., Biegner, Anika-Kerstin, Bode, Sebastian, Ehl, Stephan, Heeg, Maximilian, Maccari, Maria E., Ritterbusch, Henrike, Speckmann, Carsten, Rusch, Stephan, Scheible, Raphael, Warnatz, Klaus, Atschekzei, Faranaz, Beider, Renata, Ernst, Diana, Gerschmann, Stev, Jablonka, Alexandra, Mielke, Gudrun, Schmidt, Reinhold E., Schürmann, Gesine, Sogkas, Georgios, Baumann, Ulrich, Klemann, Christian, Viemann, Dorothee, Bernuth, Horst von, Krüger, Renate, Hanitsch, Leif Gunnar, Scheibenbogen, Carmen, Wittke, Kirsten, Albert, Michael H., Eichinger, Anna, Hauck, Fabian, Klein, Christoph, Rack-Hoch, Anita, Sollinger, Franz, Avila, Anne, Borte, Michael, Borte, Stephan, Fasshauer, Maria, Hauenherm, Anja, Kellner, Nils, Müller, Anna H., Ülzen, Anett, Bader, Peter, Bakhtiar, Shahrzad, Lee, Jae-Yun, Heß, Ursula, Schubert, Ralf, Wölke, Sandra, Zielen, Stefan, Ghosh, Sujal, Laws, Hans-Jürgen, Neubert, Jennifer, Oommen, Prasad Thomas, Hönig, Manfred, Schulz, Ansgar, Steinmann, Sandra, Schwarz, Klaus, Dückers, Gregor, Lamers, Beate, Langemeyer, Vanessa, Niehues, Tim, Shai, Sonu, Graf, Dagmar, Müglich, Carmen, Schmalzing, Marc, Schwaneck, Eva C., Tony, Hans-Peter, Dirks, Johannes, Haase, Gabriele, Liese, Johannes G., Morbach, Henner, Föll, Dirk, Hellige, Antje, Wittkowski, Helmut, Masjosthusmann, Katja, Mohr, Michael, Geberzahn, Linda, Hedrich, Christian Michael, Müller, Christiane, Rösen-Wolff, Angela, Roesler, Joachim, Zimmermann, Antje, Behrends, Uta, Rieber, Nikolaus, Schauer, Uwe, Handgretinger, Rupert, Holzer, Ursula, Henes, Jörg Christoph, Kanz, Lothar, Boesecke, Christoph, Rockstroh, Jürgen, Schwarze-Zander, Carolynne, Wasmuth, Jan-Christian, Dilloo, Dagmar, Hülsmann, Brigitte, Schönberger, Stefan, Schreiber, Stefan, Zeuner, Rainald, Ankermann, Tobias, Bismarck, Philipp von, Huppertz, Hans-Iko, Kaiser-Labusch, Petra, Greil, Johann, Jakoby, Donate, Kulozik, Andreas, Metzler, Markus, Naumann-Bartsch, Nora, Sobik, Bettina, Graf, Norbert, Heine, Sabine, Kobbe, Robin, Lehmberg, Kai, Müller, Ingo, Herrmann, Friedrich, Horneff, Gerd, Klein, Ariane, Peitz, Joachim, Schmidt, Nadine, Bielack, Stefan S., Groß-Wieltsch, Ute, Classen, Carl Friedrich, Klasen, Jessica, Deutz, Peter, Kamitz, Dirk, Lassay, Lisa, Tenbrock, Klaus, Wagner, Norbert, Bernbeck, Benedikt, Brummel, Bastian, Lara-Villacanas, Eusebia, Münstermann, Esther, Schneider, Dominik T., Tietsch, Nadine, Westkemper, Marco, Weiß, Michael, Kramm, Christof M., Kühnle, Ingrid, Kullman, Silke, Girschick, Hermann, Specker, Christof, Vinnemeier-Laubenthal, Elisabeth, Haenicke, Henriette, Schulz, Claudia, Schweigerer, Lothar, Müller, Thomas G., Stiefel, Martina, Belohradsky, Bernd H., Soetedjo, Veronika, Kindle, Gerhard, Grimbacher, Bodo, Al-Herz, Waleed, El-Helou, Sabine M., Biegner, Anika-Kerstin, Bode, Sebastian, Ehl, Stephan, Heeg, Maximilian, Maccari, Maria E., Ritterbusch, Henrike, Speckmann, Carsten, Rusch, Stephan, Scheible, Raphael, Warnatz, Klaus, Atschekzei, Faranaz, Beider, Renata, Ernst, Diana, Gerschmann, Stev, Jablonka, Alexandra, Mielke, Gudrun, Schmidt, Reinhold E., Schürmann, Gesine, Sogkas, Georgios, Baumann, Ulrich, Klemann, Christian, Viemann, Dorothee, Bernuth, Horst von, Krüger, Renate, Hanitsch, Leif Gunnar, Scheibenbogen, Carmen, Wittke, Kirsten, Albert, Michael H., Eichinger, Anna, Hauck, Fabian, Klein, Christoph, Rack-Hoch, Anita, Sollinger, Franz, Avila, Anne, Borte, Michael, Borte, Stephan, Fasshauer, Maria, Hauenherm, Anja, Kellner, Nils, Müller, Anna H., Ülzen, Anett, Bader, Peter, Bakhtiar, Shahrzad, Lee, Jae-Yun, Heß, Ursula, Schubert, Ralf, Wölke, Sandra, Zielen, Stefan, Ghosh, Sujal, Laws, Hans-Jürgen, Neubert, Jennifer, Oommen, Prasad Thomas, Hönig, Manfred, Schulz, Ansgar, Steinmann, Sandra, Schwarz, Klaus, Dückers, Gregor, Lamers, Beate, Langemeyer, Vanessa, Niehues, Tim, Shai, Sonu, Graf, Dagmar, Müglich, Carmen, Schmalzing, Marc, Schwaneck, Eva C., Tony, Hans-Peter, Dirks, Johannes, Haase, Gabriele, Liese, Johannes G., Morbach, Henner, Föll, Dirk, Hellige, Antje, Wittkowski, Helmut, Masjosthusmann, Katja, Mohr, Michael, Geberzahn, Linda, Hedrich, Christian Michael, Müller, Christiane, Rösen-Wolff, Angela, Roesler, Joachim, Zimmermann, Antje, Behrends, Uta, Rieber, Nikolaus, Schauer, Uwe, Handgretinger, Rupert, Holzer, Ursula, Henes, Jörg Christoph, Kanz, Lothar, Boesecke, Christoph, Rockstroh, Jürgen, Schwarze-Zander, Carolynne, Wasmuth, Jan-Christian, Dilloo, Dagmar, Hülsmann, Brigitte, Schönberger, Stefan, Schreiber, Stefan, Zeuner, Rainald, Ankermann, Tobias, Bismarck, Philipp von, Huppertz, Hans-Iko, Kaiser-Labusch, Petra, Greil, Johann, Jakoby, Donate, Kulozik, Andreas, Metzler, Markus, Naumann-Bartsch, Nora, Sobik, Bettina, Graf, Norbert, Heine, Sabine, Kobbe, Robin, Lehmberg, Kai, Müller, Ingo, Herrmann, Friedrich, Horneff, Gerd, Klein, Ariane, Peitz, Joachim, Schmidt, Nadine, Bielack, Stefan S., Groß-Wieltsch, Ute, Classen, Carl Friedrich, Klasen, Jessica, Deutz, Peter, Kamitz, Dirk, Lassay, Lisa, Tenbrock, Klaus, Wagner, Norbert, Bernbeck, Benedikt, Brummel, Bastian, Lara-Villacanas, Eusebia, Münstermann, Esther, Schneider, Dominik T., Tietsch, Nadine, Westkemper, Marco, Weiß, Michael, Kramm, Christof M., Kühnle, Ingrid, Kullman, Silke, Girschick, Hermann, Specker, Christof, Vinnemeier-Laubenthal, Elisabeth, Haenicke, Henriette, Schulz, Claudia, Schweigerer, Lothar, Müller, Thomas G., Stiefel, Martina, Belohradsky, Bernd H., Soetedjo, Veronika, Kindle, Gerhard, and Grimbacher, Bodo

Abstract

Introduction: The German PID-NET registry was founded in 2009, serving as the first national registry of patients with primary immunodeficiencies (PID) in Germany. It is part of the European Society for Immunodeficiencies (ESID) registry. The primary purpose of the registry is to gather data on the epidemiology, diagnostic delay, diagnosis, and treatment of PIDs. Methods: Clinical and laboratory data was collected from 2,453 patients from 36 German PID centres in an online registry. Data was analysed with the software Stata® and Excel. Results: The minimum prevalence of PID in Germany is 2.72 per 100,000 inhabitants. Among patients aged 1–25, there was a clear predominance of males. The median age of living patients ranged between 7 and 40 years, depending on the respective PID. Predominantly antibody disorders were the most prevalent group with 57% of all 2,453 PID patients (including 728 CVID patients). A gene defect was identified in 36% of patients. Familial cases were observed in 21% of patients. The age of onset for presenting symptoms ranged from birth to late adulthood (range 0–88 years). Presenting symptoms comprised infections (74%) and immune dysregulation (22%). Ninety-three patients were diagnosed without prior clinical symptoms. Regarding the general and clinical diagnostic delay, no PID had undergone a slight decrease within the last decade. However, both, SCID and hyper IgE- syndrome showed a substantial improvement in shortening the time between onset of symptoms and genetic diagnosis. Regarding treatment, 49% of all patients received immunoglobulin G (IgG) substitution (70%—subcutaneous; 29%—intravenous; 1%—unknown). Three-hundred patients underwent at least one hematopoietic stem cell transplantation (HSCT). Five patients had gene therapy. Conclusion: The German PID-NET registry is a precious tool for physicians, researchers, the pharmaceutical industry, politicians, and ultimately the patients, for whom the outcomes will eventually lead to a more

Published
2019

6. The German National Registry of Primary Immunodeficiencies (2012–2017)

Author

El-Helou, Sabine M., primary, Biegner, Anika-Kerstin, additional, Bode, Sebastian, additional, Ehl, Stephan R., additional, Heeg, Maximilian, additional, Maccari, Maria E., additional, Ritterbusch, Henrike, additional, Speckmann, Carsten, additional, Rusch, Stephan, additional, Scheible, Raphael, additional, Warnatz, Klaus, additional, Atschekzei, Faranaz, additional, Beider, Renata, additional, Ernst, Diana, additional, Gerschmann, Stev, additional, Jablonka, Alexandra, additional, Mielke, Gudrun, additional, Schmidt, Reinhold E., additional, Schürmann, Gesine, additional, Sogkas, Georgios, additional, Baumann, Ulrich H., additional, Klemann, Christian, additional, Viemann, Dorothee, additional, von Bernuth, Horst, additional, Krüger, Renate, additional, Hanitsch, Leif G., additional, Scheibenbogen, Carmen M., additional, Wittke, Kirsten, additional, Albert, Michael H., additional, Eichinger, Anna, additional, Hauck, Fabian, additional, Klein, Christoph, additional, Rack-Hoch, Anita, additional, Sollinger, Franz M., additional, Avila, Anne, additional, Borte, Michael, additional, Borte, Stephan, additional, Fasshauer, Maria, additional, Hauenherm, Anja, additional, Kellner, Nils, additional, Müller, Anna H., additional, Ülzen, Anett, additional, Bader, Peter, additional, Bakhtiar, Shahrzad, additional, Lee, Jae-Yun, additional, Heß, Ursula, additional, Schubert, Ralf, additional, Wölke, Sandra, additional, Zielen, Stefan, additional, Ghosh, Sujal, additional, Laws, Hans-Juergen, additional, Neubert, Jennifer, additional, Oommen, Prasad T., additional, Hönig, Manfred, additional, Schulz, Ansgar, additional, Steinmann, Sandra, additional, Schwarz, Klaus, additional, Dückers, Gregor, additional, Lamers, Beate, additional, Langemeyer, Vanessa, additional, Niehues, Tim, additional, Shai, Sonu, additional, Graf, Dagmar, additional, Müglich, Carmen, additional, Schmalzing, Marc T., additional, Schwaneck, Eva C., additional, Tony, Hans-Peter, additional, Dirks, Johannes, additional, Haase, Gabriele, additional, Liese, Johannes G., additional, Morbach, Henner, additional, Foell, Dirk, additional, Hellige, Antje, additional, Wittkowski, Helmut, additional, Masjosthusmann, Katja, additional, Mohr, Michael, additional, Geberzahn, Linda, additional, Hedrich, Christian M., additional, Müller, Christiane, additional, Rösen-Wolff, Angela, additional, Roesler, Joachim, additional, Zimmermann, Antje, additional, Behrends, Uta, additional, Rieber, Nikolaus, additional, Schauer, Uwe, additional, Handgretinger, Rupert, additional, Holzer, Ursula, additional, Henes, Jörg, additional, Kanz, Lothar, additional, Boesecke, Christoph, additional, Rockstroh, Jürgen K., additional, Schwarze-Zander, Carolynne, additional, Wasmuth, Jan-Christian, additional, Dilloo, Dagmar, additional, Hülsmann, Brigitte, additional, Schönberger, Stefan, additional, Schreiber, Stefan, additional, Zeuner, Rainald, additional, Ankermann, Tobias, additional, Bismarck, Philipp von, additional, Huppertz, Hans-Iko, additional, Kaiser-Labusch, Petra, additional, Greil, Johann, additional, Jakoby, Donate, additional, Kulozik, Andreas E., additional, Metzler, Markus, additional, Naumann-Bartsch, Nora, additional, Sobik, Bettina, additional, Graf, Norbert, additional, Heine, Sabine, additional, Kobbe, Robin, additional, Lehmberg, Kai, additional, Müller, Ingo, additional, Herrmann, Friedrich, additional, Horneff, Gerd, additional, Klein, Ariane, additional, Peitz, Joachim, additional, Schmidt, Nadine, additional, Bielack, Stefan, additional, Groß-Wieltsch, Ute, additional, Classen, Carl F., additional, Klasen, Jessica, additional, Deutz, Peter, additional, Kamitz, Dirk, additional, Lassay, Lisa, additional, Tenbrock, Klaus, additional, Wagner, Norbert, additional, Bernbeck, Benedikt, additional, Brummel, Bastian, additional, Lara-Villacanas, Eusebia, additional, Münstermann, Esther, additional, Schneider, Dominik T., additional, Tietsch, Nadine, additional, Westkemper, Marco, additional, Weiß, Michael, additional, Kramm, Christof, additional, Kühnle, Ingrid, additional, Kullmann, Silke, additional, Girschick, Hermann, additional, Specker, Christof, additional, Vinnemeier-Laubenthal, Elisabeth, additional, Haenicke, Henriette, additional, Schulz, Claudia, additional, Schweigerer, Lothar, additional, Müller, Thomas G., additional, Stiefel, Martina, additional, Belohradsky, Bernd H., additional, Soetedjo, Veronika, additional, Kindle, Gerhard, additional, and Grimbacher, Bodo, additional

Published
2019
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7. Diamond-Blackfan Anemia Phenotype Caused By Deficiency of Adenosine Deaminase 2

Author

Szvetnik, Enikoe Amina, primary, Klemann, Christian, additional, Hainmann, Ina, additional, O'-Donohue, Marie-Francoise, additional, Farkas, Tamás, additional, Niewisch, Marena, additional, Grosse, Regine, additional, Escherich, Gabriele, additional, Unal, Sule, additional, Guleray, Naz, additional, Gokce, Muge, additional, Da Costa, Lydie, additional, LeBlanc, Thierry, additional, Dollfus, Hélène, additional, Lara-Villacanas, Eusebia, additional, Wiesel, Thomas, additional, Pastor Loyola, Victor, additional, Sahoo, Sushree Sangita, additional, Steinemann, Doris, additional, Lorenz, Myriam, additional, Schwarz, Klaus, additional, Ehl, Stephan, additional, Hershfield, Michael, additional, Gleizes, Pierre-Emmanuel, additional, Niemeyer, Charlotte M., additional, MacInnes, Alyson W., additional, and Wlodarski, Marcin W., additional

Published
2017
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8. The German National Registry of Primary Immunodeficiencies (2012-2017)

Author

El-Helou, Sabine M., Biegner, Anika-Kerstin, Bode, Sebastian, Ehl, Stephan R., Heeg, Maximilian, Maccari, Maria E., Ritterbusch, Henrike, Speckmann, Carsten, Rusch, Stephan, Scheible, Raphael, Warnatz, Klaus, Atschekzei, Faranaz, Beider, Renata, Ernst, Diana, Gerschmann, Stev, Jablonka, Alexandra, Mielke, Gudrun, Schmidt, Reinhold E., Schürmann, Gesine, Sogkas, Georgios, Baumann, Ulrich H., Klemann, Christian, Viemann, Dorothee, Von Bernuth, Horst, Krüger, Renate, Hanitsch, Leif G., Scheibenbogen, Carmen M., Wittke, Kirsten, Albert, Michael H., Eichinger, Anna, Hauck, Fabian, Klein, Christoph, Rack-Hoch, Anita, Sollinger, Franz M., Avila, Anne, Borte, Michael, Borte, Stephan, Fasshauer, Maria, Hauenherm, Anja, Kellner, Nils, Müller, Anna H., Ülzen, Anett, Bader, Peter, Bakhtiar, Shahrzad, Lee, Jae-Yun, Heß, Ursula, Schubert, Ralf, Wölke, Sandra, Zielen, Stefan, Ghosh, Sujal, Laws, Hans-Juergen, Neubert, Jennifer, Oommen, Prasad T., Hönig, Manfred, Schulz, Ansgar, Steinmann, Sandra, Schwarz, Klaus, Dückers, Gregor, Lamers, Beate, Langemeyer, Vanessa, Niehues, Tim, Shai, Sonu, Graf, Dagmar, Müglich, Carmen, Schmalzing, Marc T., Schwaneck, Eva C., Tony, Hans-Peter, Dirks, Johannes, Haase, Gabriele, Liese, Johannes G., Morbach, Henner, Foell, Dirk, Hellige, Antje, Wittkowski, Helmut, Masjosthusmann, Katja, Mohr, Michael, Geberzahn, Linda, Hedrich, Christian M., Müller, Christiane, Rösen-Wolff, Angela, Roesler, Joachim, Zimmermann, Antje, Behrends, Uta, Rieber, Nikolaus, Schauer, Uwe, Handgretinger, Rupert, Holzer, Ursula, Henes, Jörg, Kanz, Lothar, Boesecke, Christoph, Rockstroh, Jürgen K., Schwarze-Zander, Carolynne, Wasmuth, Jan-Christian, Dilloo, Dagmar, Hülsmann, Brigitte, Schönberger, Stefan, Schreiber, Stefan, Zeuner, Rainald, Ankermann, Tobias, Von Bismarck, Philipp, Huppertz, Hans-Iko, Kaiser-Labusch, Petra, Greil, Johann, Jakoby, Donate, Kulozik, Andreas E., Metzler, Markus, Naumann-Bartsch, Nora, Sobik, Bettina, Graf, Norbert, Heine, Sabine, Kobbe, Robin, Lehmberg, Kai, Müller, Ingo, Herrmann, Friedrich, Horneff, Gerd, Klein, Ariane, Peitz, Joachim, Schmidt, Nadine, Bielack, Stefan, Groß-Wieltsch, Ute, Classen, Carl F., Klasen, Jessica, Deutz, Peter, Kamitz, Dirk, Lassay, Lisa, Tenbrock, Klaus, Wagner, Norbert, Bernbeck, Benedikt, Brummel, Bastian, Lara-Villacanas, Eusebia, Münstermann, Esther, Schneider, Dominik T., Tietsch, Nadine, Westkemper, Marco, Weiß, Michael, Kramm, Christof, Kühnle, Ingrid, Kullmann, Silke, Girschick, Hermann, Specker, Christof, Vinnemeier-Laubenthal, Elisabeth, Haenicke, Henriette, Schulz, Claudia, Schweigerer, Lothar, Müller, Thomas G., Stiefel, Martina, Belohradsky, Bernd H., Soetedjo, Veronika, Kindle, Gerhard, and Grimbacher, Bodo

Subjects
3. Good health
Abstract

Frontiers in immunology 10, 1272 (2019). doi:10.3389/fimmu.2019.01272, Published by Frontiers Media, Lausanne

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