Search Results - "Dueckers, Gregor"

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation by Jansen, Eric J. R., Timal, Sharita, Ryan, Margret, Ashikov, Angel, van Scherpenzeel, Monique, Graham, Laurie A., Mandel, Hanna, Hoischen, Alexander, Iancu, Theodore C., Raymond, Kimiyo, Steenbergen, Gerry, Gilissen, Christian, Huijben, Karin, van Bakel, Nick H. M., Maeda, Yusuke, Rodenburg, Richard J., Adamowicz, Maciej, Crushell, Ellen, Koenen, Hans, Adams, Darius, Vodopiutz, Julia, Greber-Platzer, Susanne, Müller, Thomas, Dueckers, Gregor, Morava, Eva, Sykut-Cegielska, Jolanta, Martens, Gerard J. M., Wevers, Ron A., Niehues, Tim, Huynen, Martijn A., Veltman, Joris A., Stevens, Tom H., Lefeber, Dirk J.

“…The V-ATPase is the main regulator of intra-organellar acidification. Assembly of this complex has extensively been studied in yeast, while limited knowledge…”
Get full text

Increasing Mixed Chimerism Is an Important Prognostic Factor for Unfavorable Outcome in Children With Acute Lymphoblastic Leukemia After Allogeneic Stem-Cell Transplantation: Possible Role For Pre-Emptive Immunotherapy? by BADER, Peter, KREYENBERG, Hermann, NIEMEYER, Charlotte, VON STACKELBERG, Arend, GRUHN, Bernd, HENZE, Günter, GREIL, Johann, NIETHAMMER, Dietrich, DIETZ, Klaus, BECK, James F, KLINGEBIEL, Thomas, HOELLE, Walter, DUECKERS, Gregor, HANDGRETINGER, Rupert, LANG, Peter, KREMENS, Bernhard, DILLOO, Dagmar, SYKORA, Karl-Walter, SCHRAPPE, Martin

“…We recently reported that children with acute leukemias who show increasing mixed chimerism (MC) after allogeneic stem-cell transplantation have a…”
Get full text

Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES) by Spielberger, Benedikt D, Woellner, Cristina, MSc, Dueckers, Gregor, MD, Sawalle-Belohradsky, Julie, Hagl, Beate, PhD, Anslinger, Katja, MD, Bayer, Birgit, Siepermann, Kathrin, MD, Niehues, Tim, MD, Grimbacher, Bodo, MD, Belohradsky, Bernd H., MD, Renner, Ellen D., MD

“…To confirm STAT3-HIES, sequencing of the gene STAT3 was performed by using the Sanger technique with genomic DNA (gDNA) extracted from peripheral blood, as…”
Get full text

Juvenile Idiopathic Arthritis by Dückers, Gregor

Get full text

German evidence- and consensus-based guidelines 2011 for the treatment of juvenile idiopathic arthritis (JIA) by Dueckers, Gregor, Guellac, Nihal, Arbogast, Martin, Dannecker, Guenther, Foeldvari, Ivan, Frosch, Michael, Ganser, Gerd, Heiligenhaus, Arnd, Horneff, Gerd, Illhardt, Arnold, Krauspe, Ruediger, Schneider, Matthias, Singendonk, Wolfram, Sitter, Helmut, Markus, Barbara, Spamer, Marianne, Wagner, Norbert, Niehues, Tim

Get full text

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects by Schwab, Charlotte, Gabrysch, Annemarie, Olbrich, Peter, Patiño, Virginia, Warnatz, Klaus, Wolff, Daniel, Hoshino, Akihiro, Kobayashi, Masao, Imai, Kohsuke, Takagi, Masatoshi, Dybedal, Ingunn, Haddock, Jamanda A., Sansom, David M., Lucena, Jose M., Seidl, Maximilian, Schmitt-Graeff, Annette, Reiser, Veronika, Emmerich, Florian, Frede, Natalie, Bulashevska, Alla, Salzer, Ulrich, Schubert, Desirée, Hayakawa, Seiichi, Okada, Satoshi, Kanariou, Maria, Kucuk, Zeynep Yesim, Chapdelaine, Hugo, Petruzelkova, Lenka, Sumnik, Zdenek, Sediva, Anna, Slatter, Mary, Arkwright, Peter D., Cant, Andrew, Lorenz, Hanns-Martin, Giese, Thomas, Lougaris, Vassilios, Plebani, Alessandro, Price, Christina, Sullivan, Kathleen E., Moutschen, Michel, Litzman, Jiri, Freiberger, Tomas, van de Veerdonk, Frank L., Recher, Mike, Albert, Michael H., Hauck, Fabian, Seneviratne, Suranjith, Pachlopnik Schmid, Jana, Kolios, Antonios, Unglik, Gary, Klemann, Christian, Speckmann, Carsten, Ehl, Stephan, Leichtner, Alan, Blumberg, Richard, Franke, Andre, Snapper, Scott, Zeissig, Sebastian, Cunningham-Rundles, Charlotte, Giulino-Roth, Lisa, Elemento, Olivier, Dückers, Gregor, Niehues, Tim, Fronkova, Eva, Kanderová, Veronika, Platt, Craig D., Chou, Janet, Chatila, Talal A., Geha, Raif, McDermott, Elizabeth, Bunn, Su, Kurzai, Monika, Schulz, Ansgar, Alsina, Laia, Casals, Ferran, Deyà-Martinez, Angela, Hambleton, Sophie, Kanegane, Hirokazu, Taskén, Kjetil, Neth, Olaf, Grimbacher, Bodo

“…Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is a negative immune regulator. Heterozygous CTLA4 germline mutations can cause a complex immune dysregulation…”
Get full text

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations by Schubert, Desirée, Bode, Claudia, Kenefeck, Rupert, Hou, Tie Zheng, Wing, James B, Kennedy, Alan, Bulashevska, Alla, Petersen, Britt-Sabina, Schäffer, Alejandro A, Grüning, Björn A, Unger, Susanne, Frede, Natalie, Baumann, Ulrich, Witte, Torsten, Schmidt, Reinhold E, Dueckers, Gregor, Niehues, Tim, Seneviratne, Suranjith, Kanariou, Maria, Speckmann, Carsten, Ehl, Stephan, Rensing-Ehl, Anne, Warnatz, Klaus, Rakhmanov, Mirzokhid, Thimme, Robert, Hasselblatt, Peter, Emmerich, Florian, Cathomen, Toni, Backofen, Rolf, Fisch, Paul, Seidl, Maximilian, May, Annette, Schmitt-Graeff, Annette, Ikemizu, Shinji, Salzer, Ulrich, Franke, Andre, Sakaguchi, Shimon, Walker, Lucy S K, Sansom, David M, Grimbacher, Bodo

“…Mutations in the costimulatory molecule CTLA-4 in six families are associated with immune dysregulation. The protein cytotoxic T lymphocyte antigen-4 (CTLA-4)…”
Get full text

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency by Volpi, Stefano, Cicalese, Maria Pia, Tuijnenburg, Paul, Tool, Anton T.J., Cuadrado, Eloy, Abu-Halaweh, Marwan, Ahanchian, Hamid, Alzyoud, Raed, Akdemir, Zeynep Coban, Barzaghi, Federica, Blank, Alexander, Boisson, Bertrand, Bottino, Cristina, Brigida, Immacolata, Caorsi, Roberta, Casanova, Jean-Laurent, Chiesa, Sabrina, Chinn, Ivan Kingyue, Dückers, Gregor, Enders, Anselm, Erichsen, Hans Christian, Forbes, Lisa R., Gambin, Tomasz, Gattorno, Marco, Karimiani, Ehsan Ghayoor, Giliani, Silvia, Gold, Michael S., Jacobsen, Eva-Maria, Jansen, Machiel H., King, Jovanka R., Laxer, Ronald M., Lupski, James R., Mace, Emily, Marcenaro, Stefania, Maroofian, Reza, Meijer, Alexander B., Niehues, Tim, Notarangelo, Luigi D., Orange, Jordan, Pannicke, Ulrich, Pearson, Chris, Picco, Paolo, Quinn, Patrick J., Schulz, Ansgar, Seeborg, Filiz, Stray-Pedersen, Asbjørg, Tawamie, Hasan, van Leeuwen, Ester M.M., Aiuti, Alessandro, Yeung, Rae, Schwarz, Klaus, Kuijpers, Taco W.

“…To the Editor: Recently, a novel syndrome of combined immunodeficiency, allergy, and “auto”inflammation caused by mutations in the ARPC1B gene has been…”
Get full text

Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre‐excitation syndrome by Niehues, Tim, Özgür, Tuba Turul, Bickes, Marie, Waldmann, Rebekka, Schöning, Jennifer, Bräsen, Jan, Hagel, Christian, Ballmaier, Matthias, Klusmann, Jan‐Henning, Niedermayer, Alexandra, Pannicke, Ulrich, Enders, Anselm, Dückers, Gregor, Siepermann, Kathrin, Hempel, Julyia, Schwarz, Klaus, Viemann, Dorothee

“…AMPK (adenosine monophosphate‐activated protein kinase) is phosphorylated (AMPK‐P) in response to low energy through allosteric activation by Adenosine mono‐…”
Get full text

Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival by Vallée, Tanja C., Glasmacher, Jannik S., Buchner, Hannes, Arkwright, Peter D., Behrends, Uta, Bondarenko, Anastasia, Browning, Michael J., Buchbinder, David, Cattoni, Alessandro, Chernyshova, Liudmyla, Ciznar, Peter, Cole, Theresa, Czogała, Wojciech, Dueckers, Gregor, Edgar, John David M., Erbey, Fatih, Fasth, Anders, Ferrua, Francesca, Formankova, Renata, Gambineri, Eleonora, Gennery, Andrew R., Goldman, Frederick D., Gonzalez-Granado, Luis I., Heilmann, Carsten, Heiskanen-Kosma, Tarja, Juntti, Hanna, Kainulainen, Leena, Kanegane, Hirokazu, Karaca, Neslihan E., Kilic, Sara S., Klein, Christoph, Kołtan, Sylwia, Kondratenko, Irina, Meyts, Isabelle, Nasrullayeva, Gulnara M., Notarangelo, Lucia D., Pasic, Srdjan, Pellier, Isabelle, Pignata, Claudio, Misbah, Siraj, Schulz, Ansgar, Segundo, Gesmar R., Shcherbina, Anna, Slatter, Mary, Sokolic, Robert, Soler-Palacin, Pere, Stepensky, Polina, van Montfrans, Joris M., Ryhänen, Samppa, Wolska-Kuśnierz, Beata, Ziegler, John B., Zhao, Xiaodong, Aiuti, Alessandro, Ochs, Hans D., Albert, Michael H.

“…•The type of genetic variant is a predictive biomarker for disease severity and survival in WAS.•Less severe variants entail a later onset of disease-related…”
Get full text

HSCT for DOCK8 Deficiency - an International Study on 74 Patients by Aydin, Susanne, MD, Freeman, Alexandra F., MD, Su, Helen, MD, Hickstein, Dennis, MD, Pai, Sung-Yun, MD, Geha, Raif, MD, Chatila, Talal, MD, Arnaout, Rand K., MD, Al-Mousa, Hamoud, MD, Al-Dhekri, Hasan, Renner, Ellen D., MD, Belohradsky, Bernd H., MD, Notheis, Gundula, MD, Aydin, Roland, MD, Gaspar, Bobby H., MD, Al-Herz, Waleed, MD, Gennery, Andrew, MD, Slatter, Mary, MD, Metin, Ayse, MD, Isik, Pamir, MD, Azik, Fatih, MD, Ikinciogullari, Aydan, MD, Haskologlu, Sule, MD, Dogu, Figen, MD, Kumar, Ashish, MD, PhD, Ifversen, Marianne, MD, PhD, Schuster, Friedhelm, MD, Woessmann, Wilhelm, MD, Bredius, Robbert, MD, PhD, Barlogis, Vincent, MD, Kainulainen, Leena, MD, Picard, Capucine, MD, Neven, Benedicte, MD, PhD, Shereck, Evan, MD, Schulz, Ansgar, MD, Dueckers, Gregor, MD, Van Montfrans, Joris, MD, PhD, Matthes-Martin, Susanne, MD, Keles, Sevgi, Ochs, Hans, MD, Albert, Michael H., MD

Get full text

Update of evidence- and consensus-based guidelines for the treatment of juvenile idiopathic arthritis (JIA) by the German Society of Pediatric and Juvenile Rheumatic Diseases (GKJR): New perspectives on interdisciplinary care by Oommen, Prasad T., Strauss, Timmy, Baltruschat, Karen, Foeldvari, Ivan, Deuter, Christoph, Ganser, Gerd, Haas, Johannes-Peter, Hinze, Claas, Holzinger, Dirk, Hospach, Anton, Huppertz, Hans-Iko, Illhardt, Arnold, Jung, Michael, Kallinich, Tilmann, Klein, Ariane, Minden, Kirsten, Mönkemöller, Kirsten, Mrusek, Sonja, Neudorf, Ulrich, Dückers, Gregor, Niehues, Tim, Schneider, Matthias, Schoof, Philipp, Thon, Angelika, Wachowsky, Michael, Wagner, Norbert, Bloedt, Susanne, Hofer, Michaël, Tenbrock, Klaus, Schuetz, Catharina

“…New therapeutic strategies for juvenile idiopathic arthritis (JIA) have evolved within the past ten years, and as a result, an update of the 2011…”
Get full text

Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity by Vallée, Tanja C, Glasmacher, Jannik S, Buchner, Hannes, Arkwright, Peter D, Behrends, Uta, Bondarenko, Anastasia, Browning, Michael J, Buchbinder, David K, Cattoni, Alessandro, Chernyshova, Liudmyla, Ciznar, Peter, Cole, Theresa, Czogala, Wojciech, Dueckers, Gregor, Edgar, John David M, Erbey, Fatih, Fasth, Anders, Ferrua, Francesca, Formankova, Renata, Gambineri, Eleonora, Gennery, Andrew R, Goldman, Frederick D, Gonzalez-Granado, Luis Ignacio, Heilmann, Carsten, Heiskanen-Kosma, Tarja, Juntti, Hanna, Kainulainen, Leena, Kanegane, Hirokazu, Karaca, Neslihan E., Sebnem Kilic, Sara, Klein, Christoph, Koltan, Sylwia, Kondratenko, Irina, Meyts, Isabelle, Nasrullayeva, Gulnara M, Notarangelo, Lucia Dora, Pasic, Srdjan, Pellier, Isabelle, Pignata, Claudio, Misbah, Siraj Ahmed, Schulz, Ansgar S, Segundo, Gesmar RS, Shcherbina, Anna, Slatter, Mary A, Sokolic, Robert, Soler-Palacin, Pere, Stepensky, Polina, van Montfrans, Joris M., Ryhänen, Samppa, Wolska-Kuśnierz, Beata, Ziegler, John B, Zhao, Xiaodong, Aiuti, Alessandro, Ochs, Hans D, Albert, Michael H

“…WAS is a multifaceted monogenic disorder with a broad disease spectrum and variable disease severity and a variety of treatment options including allogeneic…”
Get full text

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1 by Depner, Mark, Fuchs, Sebastian, Raabe, Jan, Frede, Natalie, Glocker, Cristina, Doffinger, Rainer, Gkrania-Klotsas, Effrossyni, Kumararatne, Dinakantha, Atkinson, T. Prescott, Schroeder, Harry W., Niehues, Tim, Dückers, Gregor, Stray-Pedersen, Asbjørg, Baumann, Ulrich, Schmidt, Reinhold, Franco, Jose L., Orrego, Julio, Ben-Shoshan, Moshe, McCusker, Christine, Jacob, Cristina Miuki Abe, Carneiro-Sampaio, Magda, Devlin, Lisa A., Edgar, J. David M., Henderson, Paul, Russell, Richard K., Skytte, Anne-Bine, Seneviratne, Suranjith L., Wanders, Jennifer, Stauss, Hans, Meyts, Isabelle, Moens, Leen, Jesenak, Milos, Kobbe, Robin, Borte, Stephan, Borte, Michael, Wright, Dowain A., Hagin, David, Torgerson, Troy R., Grimbacher, Bodo

“…Purpose Gain-of-function (GOF) mutations in the signal transducer and activator of transcription 1 ( STAT1 ) result in unbalanced STAT signaling and cause…”
Get full text

Analysis of chromosomal aberrations and γH2A.X foci to identify radiation-sensitive ataxia-telangiectasia patients by Bucher, Martin, Endesfelder, David, Roessler, Ute, Borkhardt, Arndt, Dückers, Gregor, Kirlum, Hans-Joachim, Lankisch, Petra, Oommen, Prasad T., Niehues, Tim, Rübe, Claudia E., Baumgartner, Ingrid, Bunk, Frank, Moertl, Simone, Hornhardt, Sabine, Gomolka, Maria

“…•Two common used biomarkers were evaluated for radiation sensitivity in AT children.•Both γH2A.X foci assay and mFISH analysis detected radiation-induced DNA…”
Get full text

Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2 by Neilson, Derek E., Adams, Mark D., Orr, Caitlin M.D., Schelling, Deborah K., Eiben, Robert M., Kerr, Douglas S., Anderson, Jane, Bassuk, Alexander G., Bye, Ann M., Childs, Anne-Marie, Clarke, Antonia, Crow, Yanick J., Di Rocco, Maja, Dohna-Schwake, Christian, Dueckers, Gregor, Fasano, Alfonso E., Gika, Artemis D., Gionnis, Dimitris, Gorman, Mark P., Grattan-Smith, Padraic J., Hackenberg, Annette, Kuster, Alice, Lentschig, Markus G., Lopez-Laso, Eduardo, Marco, Elysa J., Mastroyianni, Sotiria, Perrier, Julie, Schmitt-Mechelke, Thomas, Servidei, Serenella, Skardoutsou, Angeliki, Uldall, Peter, van der Knaap, Marjo S., Goglin, Karrie C., Tefft, David L., Aubin, Cristin, de Jager, Philip, Hafler, David, Warman, Matthew L.

“…Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur in otherwise healthy children after common viral infections such…”
Get full text

Lung disease in STAT3 hyper‐IgE syndrome requires intense therapy by 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.

“…Background Pulmonary complications are responsible for high morbidity and mortality rates in patients with the rare immunodeficiency disorder STAT3 hyper‐IgE…”
Get full text

Retained primary teeth in STAT3 hyper-IgE syndrome: early intervention in childhood is essential by Meixner, Iris, Hagl, Beate, Kröner, Carolin I, Spielberger, Benedikt D, Paschos, Ekaterini, Dückers, Gregor, Niehues, Tim, Hesse, Ronny, Renner, Ellen D

“…STAT3 hyper-IgE syndrome (STAT3-HIES) is a rare primary immunodeficiency that clinically overlaps with atopic dermatitis. In addition to eczema, elevated…”
Get full text

Evidence and consensus based GKJR guidelines for the treatment of juvenile idiopathic arthritis by Dueckers, Gregor, Guellac, Nihal, Arbogast, Martin, Dannecker, Guenther, Foeldvari, Ivan, Frosch, Michael, Ganser, Gerd, Heiligenhaus, Arnd, Horneff, Gerd, Illhardt, Arnold, Kopp, Ina, Krauspe, Ruediger, Markus, Barbara, Michels, Hartmut, Schneider, Matthias, Singendonk, Wolfram, Sitter, Helmut, Spamer, Marianne, Wagner, Norbert, Niehues, Tim

“…Abstract Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in children and adolescents. Immunomodulatory drugs are used frequently in…”
Get full text

Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50 by Fliegauf, Manfred, Kinnunen, Matias, Posadas-Cantera, Sara, Camacho-Ordonez, Nadezhda, Abolhassani, Hassan, Alsina, Laia, Atschekzei, Faranaz, Bogaert, Delfien J., Burns, Siobhan O., Church, Joseph A., Dückers, Gregor, Freeman, Alexandra F., Hammarström, Lennart, Hanitsch, Leif Gunnar, Kerre, Tessa, Kobbe, Robin, Sharapova, Svetlana O., Siepermann, Kathrin, Speckmann, Carsten, Steiner, Sophie, Verma, Nisha, Walter, Jolan E., Westermann-Clark, Emma, Goldacker, Sigune, Warnatz, Klaus, Varjosalo, Markku, Grimbacher, Bodo

“…Most of the currently known heterozygous pathogenic NFKB1 (Nuclear factor kappa B subunit 1) variants comprise deleterious defects such as severe truncations,…”
Get full text