Search Results - "Hauck, Fabian"

The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of Immunity by Seidel, Markus G., Tesch, Victoria K., Yang, Linlin, Hauck, Fabian, Horn, Anna Lena, Smolle, Maria Anna, Quehenberger, Franz, Benesch, Martin

“…Quantifying the phenotypic features of rare diseases such as inborn errors of immunity (IEI) helps clinicians make diagnoses, classify disorders, and objectify…”
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Epstein-Barr Virus + Smooth Muscle Tumors as Manifestation of Primary Immunodeficiency Disorders by Magg, Thomas, Schober, Tilmann, Walz, Christoph, Ley-Zaporozhan, Julia, Facchetti, Fabio, Klein, Christoph, Hauck, Fabian

“…Epstein-Barr virus positive (EBV ) smooth muscle tumors (SMTs) constitute a very rare oncological entity. They usually develop in the context of secondary…”
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T-cell replete haploidentical bone marrow transplantation and post-transplant cyclophosphamide for patients with inborn errors by Kurzay, Mathias, Hauck, Fabian, Schmid, Irene, Wiebking, Volker, Eichinger, Anna, Jung, Eva, Boekstegers, Ann, Feuchtinger, Tobias, Klein, Christoph, Albert, Michael H

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Valosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses by Ghalandary, Maryam, Li, Yue, Fröhlich, Thomas, Magg, Thomas, Liu, Yanshan, Rohlfs, Meino, Hollizeck, Sebastian, Conca, Raffaele, Schwerd, Tobias, Uhlig, Holm H., Bufler, Philip, Koletzko, Sibylle, Muise, Aleixo M., Snapper, Scott B., Hauck, Fabian, Klein, Christoph, Kotlarz, Daniel

“…NOD2 polymorphisms may affect sensing of the bacterial muramyl dipeptide (MDP) and trigger perturbed inflammatory responses. Genetic screening of a patient…”
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Lineage-Specific Chimerism and Outcome After Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency by Raedler, Johannes, Magg, Thomas, Rohlfs, Meino, Klein, Christoph, Vallée, Tanja, Hauck, Fabian, Albert, Michael H.

“…Bi-allelic variants in the dedicator of cytokinesis 8 ( DOCK8 ) gene cause a combined immunodeficiency, characterized by recurrent sinopulmonary and skin…”
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Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients by Staufner, Christian, Peters, Bianca, Wagner, Matias, Alameer, Seham, Barić, Ivo, Broué, Pierre, Bulut, Derya, Church, Joseph A., Crushell, Ellen, Dalgıç, Buket, Das, Anibh M., Dick, Anke, Dikow, Nicola, Dionisi-Vici, Carlo, Distelmaier, Felix, Bozbulut, Neslihan Ekşi, Feillet, François, Gonzales, Emmanuel, Hadzic, Nedim, Hauck, Fabian, Hegarty, Robert, Hempel, Maja, Herget, Theresia, Klein, Christoph, Konstantopoulou, Vassiliki, Kopajtich, Robert, Kuster, Alice, Laass, Martin W., Lainka, Elke, Larson-Nath, Catherine, Leibner, Alexander, Lurz, Eberhard, Mayr, Johannes A., McKiernan, Patrick, Mention, Karine, Moog, Ute, Mungan, Neslihan Onenli, Riedhammer, Korbinian M., Santer, René, Palafoll, Irene Valenzuela, Vockley, Jerry, Westphal, Dominik S., Wiedemann, Arnaud, Wortmann, Saskia B., Diwan, Gaurav D., Russell, Robert B., Prokisch, Holger, Garbade, Sven F., Kölker, Stefan, Hoffmann, Georg F., Lenz, Dominic

“…Pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal…”
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Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency by Eichinger, Anna, von Bernuth, Horst, Dedieu, Cinzia, Schroeder, Sebastian A., la Marca, Giancarlo, Albert, Michael H., Hauck, Fabian

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Editorial: The Relationship Between Cancer Predisposition and Primary Immunodeficiency by Hauck, Fabian, Gennery, Andrew R, Seidel, Markus G

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Correction to: The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of Immunity by Seidel, Markus G., Tesch, Victoria K., Yang, Linlin, Hauck, Fabian, Horn, Anna Lena, Smolle, Maria Anna, Quehenberger, Franz, Benesch, Martin

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Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation by Moshous, Despina, MD, PhD, Martin, Emmanuel, PhD, Carpentier, Wassila, PhD, Lim, Annick, PhD, Callebaut, Isabelle, PhD, Canioni, Danielle, MD, PhD, Hauck, Fabian, MD, Majewski, Jacek, PhD, Schwartzentruber, Jeremy, MSc, Nitschke, Patrick, PhD, Sirvent, Nicolas, MD, PhD, Frange, Pierre, MD, Picard, Capucine, MD, PhD, Blanche, Stéphane, MD, Revy, Patrick, PhD, Fischer, Alain, MD, PhD, Latour, Sylvain, PhD, Jabado, Nada, MD, PhD, de Villartay, Jean-Pierre, PhD

“…Background Primary immunodeficiencies are a rare group of inborn diseases characterized by a broad clinical and genetic heterogeneity. Substantial advances in…”
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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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Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency by Hauck, Fabian, MD, Randriamampita, Clotilde, PhD, Martin, Emmanuel, PhD, Gerart, Stéphane, PhD, Lambert, Nathalie, AS, Lim, Annick, MS, Soulier, Jean, MD, PhD, Maciorowski, Zosia, BS, Touzot, Fabien, MD, PhD, Moshous, Despina, MD, PhD, Quartier, Pierre, MD, Heritier, Sébastien, MD, Blanche, Stéphane, MD, Rieux-Laucat, Fréderic, PhD, Brousse, Nicole, MD, Callebaut, Isabelle, PhD, Veillette, André, MD, Hivroz, Claire, PhD, Fischer, Alain, MD, PhD, Latour, Sylvain, PhD, Picard, Capucine, MD, PhD

“…Background Signals emanating from the antigen T-cell receptor (TCR) are required for T-cell development and function. The T lymphocyte–specific protein…”
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An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee by Choukair, Daniela, Hauck, Fabian, Bettendorf, Markus, Krude, Heiko, Klein, Christoph, Bäumer, Tobias, Berner, Reinhard, Lee-Kirsch, Min Ae, Grasemann, Corinna, Burgard, Peter, Hoffmann, Georg F

“…Diagnosis, treatment, and care of patients with rare diseases require multidisciplinary cooperation between medical and paramedical specialities and with…”
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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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NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency by Lenz, Dominic, Pahl, Jens, Hauck, Fabian, Alameer, Seham, Balasubramanian, Meena, Baric, Ivo, Boy, Nikolas, Church, Joseph A., Crushell, Ellen, Dick, Anke, Distelmaier, Felix, Gujar, Jidnyasa, Indolfi, Giuseppe, Lurz, Eberhard, Peters, Bianca, Schwerd, Tobias, Serranti, Daniele, Kölker, Stefan, Klein, Christoph, Hoffmann, Georg F., Prokisch, Holger, Greil, Johann, Cerwenka, Adelheid, Giese, Thomas, Staufner, Christian

“…Purpose Biallelic pathogenic NBAS variants manifest as a multisystem disorder with heterogeneous clinical phenotypes such as recurrent acute liver failure,…”
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T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency by Heller, Stephanie, Kölsch, Uwe, Magg, Thomas, Krüger, Renate, Scheuern, Andrea, Schneider, Holm, Eichinger, Anna, Wahn, Volker, Unterwalder, Nadine, Lorenz, Myriam, Schwarz, Klaus, Meisel, Christian, Schulz, Ansgar, Hauck, Fabian, von Bernuth, Horst

“…Purpose NEMO-deficient patients present with variable degrees of immunodeficiency. Accordingly, treatment ranges from antibiotic prophylaxis and/or…”
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Transition for adolescents with a rare disease: results of a nationwide German project by Grasemann, Corinna, Höppner, Jakob, Burgard, Peter, Schündeln, Michael M, Matar, Nora, Müller, Gabriele, Krude, Heiko, Berner, Reinhard, Lee-Kirsch, Min Ae, Hauck, Fabian, Wainwright, Kerstin, Baumgarten, Sylvana, Atinga, Janet, Bauer, Jens J, Manka, Eva, Körholz, Julia, Kiewert, Cordula, Heinen, André, Kretschmer, Tanita, Kurth, Tobias, Mittnacht, Janna, Schramm, Christoph, Klein, Christoph, Graessner, Holm, Hiort, Olaf, Muntau, Ania C, Grüters, Annette, Hoffmann, Georg F, Choukair, Daniela

“…The transition process from paediatric/adolescent to adult medical care settings is of utmost importance for the future health of adolescents with chronic…”
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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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Scoping review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents by Hospach, Toni, Glowatzki, Fabian, Blankenburg, Friederike, Conzelmann, Dennis, Stirnkorb, Christian, Müllerschön, Chris Sandra, von den Driesch, Peter, Köhler, Lisa Maria, Rohlfs, Meino, Klein, Christoph, Hauck, Fabian

“…Deficiency of interleukin-36 receptor antagonist (DITRA) is a life threatening monogenic autoinflammatory disease caused by loss of function mutations in the…”
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Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group by Bomken, Simon, van der Werff Ten Bosch, Jutte, Attarbaschi, Andishe, Bacon, Chris M, Borkhardt, Arndt, Boztug, Kaan, Fischer, Ute, Hauck, Fabian, Kuiper, Roland P, Lammens, Tim, Loeffen, Jan, Neven, Bénédicte, Pan-Hammarström, Qiang, Quinti, Isabella, Seidel, Markus G, Warnatz, Klaus, Wehr, Claudia, Lankester, Arjan C, Gennery, Andrew R

“…Patients with inborn errors of immunity or DNA repair defects are at significant risk of developing malignancy and this complication of their underlying…”
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