Search Results - "SCHUETZ, Catharina"

Activated PI3Kδ syndrome - reviewing challenges in diagnosis and treatment by Vanselow, Sven, Wahn, Volker, Schuetz, Catharina

“…Activated PI3Kδ syndrome (APDS) is a rare inborn error of immunity (IEI) characterized primarily by frequent infections, lymphoproliferation and autoimmunity…”
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Established and Emerging Treatments of Skin GvHD by Link-Rachner, Cornelia S, Sockel, Katja, Schuetz, Catharina

“…Graft-versus-host disease (GvHD) of the skin is a severe allo-immune reaction and complication following allogeneic stem cell transplantation. Over the past…”
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One gene to rule them all - clinical perspectives of a potent suppressor of cytokine signaling - SOCS1 by Körholz, Julia, Chen, Lan-Sun, Strauss, Timmy, Schuetz, Catharina, Dalpke, Alexander H

“…The discovery of Suppressor of Cytokine Signaling 1 (SOCS1) in 1997 marked a significant milestone in understanding the regulation of Janus kinase/Signal…”
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Biomarkers of DNA Damage Response Enable Flow Cytometry-Based Diagnostic to Identify Inborn DNA Repair Defects in Primary Immunodeficiencies by Felgentreff, Kerstin, Baumann, Ulrich, Klemann, Christian, Schuetz, Catharina, Viemann, Dorothee, Wetzke, Martin, Pannicke, Ulrich, von Hardenberg, Sandra, Auber, Bernd, Debatin, Klaus-Michael, Jacobsen, Eva-Maria, Hoenig, Manfred, Schulz, Ansgar, Schwarz, Klaus

“…DNA damage is a constant event in every cell caused by exogenous factors such as ultraviolet and ionizing radiation (UVR/IR) and intercalating drugs, or…”
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Positive and negative selection shape the human naive B cell repertoire by Chen, Jeff W, Schickel, Jean-Nicolas, Tsakiris, Nikolaos, Sng, Joel, Arbogast, Florent, Bouis, Delphine, Parisi, Daniele, Gera, Ruchi, Boeckers, Joshua M, Delmotte, Fabien R, Veselits, Margaret, Schuetz, Catharina, Jacobsen, Eva-Maria, Posovszky, Carsten, Schulz, Ansgar S, Schwarz, Klaus, Clark, Marcus R, Menard, Laurence, Meffre, Eric

“…Although negative selection of developing B cells in the periphery is well described, yet poorly understood, evidence of naive B cell positive selection…”
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Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders by Slack, James, MD, Albert, Michael H., MD, Balashov, Dmitry, PhD, Belohradsky, Bernd H., MD, Bertaina, Alice, PhD, Bleesing, Jack, PhD, Booth, Claire, PhD, Buechner, Jochen, PhD, Buckley, Rebecca H., MD, Ouachée-Chardin, Marie, MD, Deripapa, Elena, MD, Drabko, Katarzyna, MD, Eapen, Mary, MD, Feuchtinger, Tobias, MD, Finocchi, Andrea, PhD, Gaspar, H. Bobby, PhD, Ghosh, Sujal, MD, Gillio, Alfred, MD, Gonzalez-Granado, Luis I., MD, Grunebaum, Eyal, MD, Güngör, Tayfun, MD, Heilmann, Carsten, MD, Helminen, Merja, PhD, Higuchi, Kohei, MD, Imai, Kohsuke, PhD, Kalwak, Krzysztof, MD, Kanazawa, Nubuo, PhD, Karasu, Gülsün, MD, Kucuk, Zeynep Y., MD, Laberko, Alexandra, MD, Lange, Andrzej, MD, Mahlaoui, Nizar, MD, Meisel, Roland, MD, Moshous, D., PhD, Muramatsu, Hideki, PhD, Parikh, Suhag, MD, Pasic, Srdjan, PhD, Schmid, Irene, MD, Schuetz, Catharina, PhD, Schulz, Ansgar, MD, Schultz, Kirk R., MD, Shaw, Peter J., MD, Slatter, Mary A., MD, Sykora, Karl-Walter, PhD, Tamura, Shinobu, PhD, Taskinen, Mervi, MD, Wawer, Angela, MD, Wolska-Kuśnierz, Beata, PhD, Cowan, Morton J., MD, Fischer, Alain, PhD, Gennery, Andrew R., MD

“…Background Rare DNA breakage repair disorders predispose to infection and lymphoreticular malignancies. Hematopoietic cell transplantation (HCT) is curative,…”
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Daratumumab in life-threatening autoimmune hemolytic anemia following hematopoietic stem cell transplantation by Schuetz, Catharina, Hoenig, Manfred, Moshous, Despina, Weinstock, Christof, Castelle, Martin, Bendavid, Matthieu, Shimano, Kristin, Tolbert, Vanessa, Schulz, Ansgar S., Dvorak, Christopher C.

“…New-onset autoimmune hemolytic anemia (AIHA) occurs in 2% to 6% of pediatric patients post–hematopoietic stem cell transplantation (HSCT) and is a significant…”
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Salvage HLA-haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide for graft failure in non-malignant disorders by Albert, Michael H., Sirin, Mehtap, Hoenig, Manfred, Hauck, Fabian, Schuetz, Catharina, Bhattacharyya, Rajat, Stepensky, Polina, Jacoby, Elad, Güngör, Tayfun, Beier, Rita, Schulz, Ansgar

“…Graft failure requires urgent salvage HSCT, but there is no universally accepted approach for this situation. We investigated T-cell replete haploidentical…”
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Paediatric systemic inflammatory response syndrome (SIRS) and the development of patient-specific therapy: ethical perspectives through experts’ opinions by Stolte, Frederik, Aleksandrova-Yankulovska, Silviya, Thiemicke, Paul, Orzechowski, Marcin, Schuetz, Catharina, Steger, Florian

“…Background Research for personalised therapies concerning the Systemic Inflammatory Response Syndrome (SIRS) in children involves the utilisation of OMICS…”
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PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator–dependent autoimmunity by Mathieu, Anne-Laure, PhD, Verronese, Estelle, BS, Rice, Gillian I., PhD, Fouyssac, Fanny, MD, Bertrand, Yves, MD, PhD, Picard, Capucine, MD, PhD, Chansel, Marie, MSc, Walter, Jolan E., MD, PhD, Notarangelo, Luigi D., MD, Butte, Manish J., MD, PhD, Nadeau, Kari Christine, MD, PhD, Csomos, Krisztian, PhD, Chen, David J., PhD, Chen, Karin, MD, Delgado, Ana, BS, Rigal, Chantal, BS, Bardin, Christine, BS, Schuetz, Catharina, MD, PhD, Moshous, Despina, MD, PhD, Reumaux, Héloïse, MD, Plenat, François, MD, PhD, Phan, Alice, MD, PhD, Zabot, Marie-Thérèse, PharmD, PhD, Balme, Brigitte, MD, Viel, Sébastien, PharmD, Bienvenu, Jacques, PharmD, PhD, Cochat, Pierre, MD, PhD, van der Burg, Mirjam, PhD, Caux, Christophe, PhD, Kemp, E. Helen, BSc, PhD, Rouvet, Isabelle, PharmD, PhD, Malcus, Christophe, PharmD, PhD, Méritet, Jean-Francois, PharmD, PhD, Lim, Annick, MSc, Crow, Yanick J., MD, PhD, Fabien, Nicole, PharmD, PhD, Ménétrier-Caux, Christine, PhD, De Villartay, Jean-Pierre, PhD, Walzer, Thierry, PhD, Belot, Alexandre, MD, PhD

“…Background PRKDC encodes for DNA-dependent protein kinase catalytic subunit (DNA-PKcs), a kinase that forms part of a complex (DNA-dependent protein kinase…”
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Future Directions in the Diagnosis and Treatment of APDS and IEI: a Survey of German IEI Centers by Vanselow, Sven, Hanitsch, Leif, Hauck, Fabian, Körholz, Julia, Maccari, Maria-Elena, Meinhardt, Andrea, Sogkas, Georgios, Schuetz, Catharina, Grimbacher, Bodo

“…Introduction The diagnosis and treatment of inborn errors of immunity (IEI) is a major challenge as the individual conditions are rare and often characterized…”
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Differential DNA Damage Response of Peripheral Blood Lymphocyte Populations by Felgentreff, Kerstin, Schuetz, Catharina, Baumann, Ulrich, Klemann, Christian, Viemann, Dorothee, Ursu, Simona, Jacobsen, Eva-Maria, Debatin, Klaus-Michael, Schulz, Ansgar, Hoenig, Manfred, Schwarz, Klaus

“…DNA damage occurs constantly in every cell triggered by endogenous processes of replication and metabolism, and external influences such as ionizing radiation…”
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Compound heterozygous variants in OTULIN are associated with fulminant atypical late‐onset ORAS by Zinngrebe, Julia, Moepps, Barbara, Monecke, Thomas, Gierschik, Peter, Schlichtig, Ferdinand, Barth, Thomas F E, Strauß, Gudrun, Boldrin, Elena, Posovszky, Carsten, Schulz, Ansgar, Beringer, Ortraud, Rieser, Eva, Jacobsen, Eva‐Maria, Lorenz, Myriam Ricarda, Schwarz, Klaus, Pannicke, Ulrich, Walczak, Henning, Niessing, Dierk, Schuetz, Catharina, Fischer‐Posovszky, Pamela, Debatin, Klaus‐Michael

“…Autoinflammatory diseases are a heterogenous group of disorders defined by fever and systemic inflammation suggesting involvement of genes regulating innate…”
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Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia by Zielen, Stefan, Duecker, Ruth Pia, Woelke, Sandra, Donath, Helena, Bakhtiar, Sharhzad, Buecker, Aileen, Kreyenberg, Hermann, Huenecke, Sabine, Bader, Peter, Mahlaoui, Nizar, Ehl, Stephan, El-Helou, Sabine M., Pietrucha, Barbara, Plebani, Alessandro, van der Flier, Michiel, van Aerde, Koen, Kilic, Sara S., Reda, Shereen M., Kostyuchenko, Larysa, McDermott, Elizabeth, Galal, Nermeen, Pignata, Claudio, Pérez, Juan Luis Santos, Laws, Hans-Juergen, Niehues, Tim, Kutukculer, Necil, Seidel, Markus G., Marques, Laura, Ciznar, Peter, Edgar, John David M., Soler-Palacín, Pere, von Bernuth, Horst, Krueger, Renate, Meyts, Isabelle, Baumann, Ulrich, Kanariou, Maria, Grimbacher, Bodo, Hauck, Fabian, Graf, Dagmar, Granado, Luis Ignacio Gonzalez, Prader, Seraina, Reisli, Ismail, Slatter, Mary, Rodríguez-Gallego, Carlos, Arkwright, Peter D., Bethune, Claire, Deripapa, Elena, Sharapova, Svetlana O., Lehmberg, Kai, Davies, E. Graham, Schuetz, Catharina, Kindle, Gerhard, Schubert, Ralf

“…Patients with ataxia-telangiectasia (A-T) suffer from progressive cerebellar ataxia, immunodeficiency, respiratory failure, and cancer susceptibility. From a…”
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Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome by Hoenig, Manfred, Lagresle-Peyrou, Chantal, Pannicke, Ulrich, Notarangelo, Luigi D., Porta, Fulvio, Gennery, Andrew R., Slatter, Mary, Cowan, Morton J., Stepensky, Polina, Al-Mousa, Hamoud, Al-Zahrani, Daifulah, Pai, Sung-Yun, Al Herz, Waleed, Gaspar, Hubert B., Veys, Paul, Oshima, Koichi, Imai, Kohsuke, Yabe, Hiromasa, Noroski, Lenora M., Wulffraat, Nico M., Sykora, Karl-Walter, Soler-Palacin, Pere, Muramatsu, Hideki, Al Hilali, Mariam, Moshous, Despina, Debatin, Klaus-Michael, Schuetz, Catharina, Jacobsen, Eva-Maria, Schulz, Ansgar S., Schwarz, Klaus, Fischer, Alain, Friedrich, Wilhelm, Cavazzana, Marina

“…Reticular dysgenesis (RD) is a rare congenital disorder defined clinically by the combination of severe combined immunodeficiency (SCID), agranulocytosis, and…”
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Cellular Mechanisms Underlying B Cell Abnormalities in Patients With Gain-of-Function Mutations in the PIK3CD Gene by Wang, Wenjie, Min, Qing, Lai, Nannan, Csomos, Krisztian, Wang, Ying, Liu, Luyao, Meng, Xin, Sun, Jinqiao, Hou, Jia, Ying, Wenjing, Zhou, Qinhua, Sun, Bijun, Hui, Xiaoying, Ujhazi, Boglarka, Gordon, Sumai, Buchbinder, David, Schuetz, Catharina, Butte, Manish, Walter, Jolan E., Wang, Xiaochuan, Wang, Ji-Yang

“…Background Activated phosphoinositide 3 kinase (PI3K) -delta syndrome (APDS) is an inborn error of immunity with variable clinical phenotype of…”
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Hyper-IgE and Carcinoma in CADINS Disease by Pietzsch, Leonora, Körholz, Julia, Boschann, Felix, Sergon, Mildred, Dorjbal, Batsukh, Yee, Debra, Gilly, Vanessa, Kämmerer, Eva, Paul, Diana, Kastl, Clemens, Laass, Martin W, Berner, Reinhard, Jacobsen, Eva Maria, Roesler, Joachim, Aust, Daniela, Lee-Kirsch, Min A, Snow, Andrew L, Schuetz, Catharina

“…Atopic dermatitis (AD) affects up to 25% of children and 10% of adults in Western countries. When severe or recurrent infections and exceedingly elevated serum…”
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One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency by Körholz, Julia, Gabrielyan, Anastasia, Sowerby, John M., Boschann, Felix, Chen, Lan-Sun, Paul, Diana, Brandt, David, Kleymann, Janina, Kolditz, Martin, Toepfner, Nicole, Knöfler, Ralf, Jacobsen, Eva-Maria, Wolf, Christine, Conrad, Karsten, Röber, Nadja, Lee-Kirsch, Min Ae, Smith, Kenneth G. C., Mundlos, Stefan, Berner, Reinhard, Dalpke, Alexander H., Schuetz, Catharina, Rae, William

“…Background Inborn errors of immunity (IEI) present with a large phenotypic spectrum of disease, which can pose diagnostic and therapeutic challenges…”
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A case of recurrent herpes simplex 2 encephalitis, VZV reactivations, and dominant partial interferon-gamma-receptor-1 deficiency supports relevance of IFNgamma for antiviral defense in humans by Körholz, Julia, Richter, Nicole, Schäfer, Jochen, Schuetz, Catharina, Roesler, Joachim

“…Background Unlike infections with mycobacteria, reports of unusual viral infections in interferon-gamma-receptor (IFNγR) deficient patients are scarce…”
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Reduced Humoral and Cellular Immune Response to Primary COVID-19 mRNA Vaccination in Kidney Transplanted Children Aged 5-11 Years by Lalia, Jasmin K, Schild, Raphael, Lütgehetmann, Marc, Dunay, Gabor A, Kallinich, Tilmann, Kobbe, Robin, Massoud, Mona, Oh, Jun, Pietzsch, Leonora, Schulze-Sturm, Ulf, Schuetz, Catharina, Sibbertsen, Freya, Speth, Fabian, Thieme, Sebastian, Witkowski, Mario, Berner, Reinhard, Muntau, Ania C, Gersting, Søren W, Toepfner, Nicole, Pagel, Julia, Paul, Kevin

“…The situation of limited data concerning the response to COVID-19 mRNA vaccinations in immunocom-promised children hinders evidence-based recommendations. This…”
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