Anzahl der Publikationen: 66
Zeitschriftenartikel
Lanz, Anna-Lisa; Erdem, Serife; Ozcan, Alper; Ceylaner, Gulay; Cansever, Murat; Ceylaner, Serdar; Conca, Raffaele; Magg, Thomas; Acuto, Oreste; Latour, Sylvain; Klein, Christoph; Patiroglu, Turkan; Unal, Ekrem; Eken, Ahmet und Hauck, Fabian
(2024):
A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature.
In: Journal of Clinical Immunology, Bd. 44, 1
[PDF, 1MB]
Egg, David; Rump, Ina Caroline; Mitsuiki, Noriko; Rojas-Restrepo, Jessica; Maccari, Maria-Elena; Schwab, Charlotte; Gabrysch, Annemarie; Warnatz, Klaus; Goldacker, Sigune; Patino, Virginia; Wolff, Daniel; Okada, Satoshi; Hayakawa, Seiichi; Shikama, Yoshiaki; Kanda, Kenji; Imai, Kohsuke; Sotomatsu, Manabu; Kuwashima, Makoto; Kamiya, Takahiro; Morio, Tomohiro; Matsumoto, Kazuaki; Mori, Takeshi; Yoshimoto, Yuri; Dybedal, Ingunn; Kanariou, Maria; Kucuk, Zeynep Yesim; Chapdelaine, Hugo; Petruzelkova, Lenka; Lorenz, Hanns-Martin; Sullivan, Kathleen E.; Heimall, Jennifer; Moutschen, Michel; Litzman, Jiri; Recher, Mike; Albert, Michael H.; Hauck, Fabian; Seneviratne, Suranjith; Schmid, Jana Pachlopnik; Kolios, Antonios; Unglik, Gary; Klemann, Christian; Snapper, Scott; Giulino-Roth, Lisa; Svaton, Michael; Platt, Craig D.; Hambleton, Sophie; Neth, Olaf; Gosse, Geraldine; Reinsch, Steffen; Holzinger, Dirk; Kim, Yae-Jean; Bakhtiar, Shahrzad; Atschekzei, Faranaz; Schmidt, Reinhold; Sogkas, Georgios; Chandrakasan, Shanmuganathan; Rae, William; Derfalvi, Beata; Marquart, Hanne Vibeke; Ozen, Ahmet; Kiykim, Ayca; Karakoc-Aydiner, Elif; Kralickova, Pavlina; de Bree, Godelieve; Kiritsi, Dimitra; Seidel, Markus G.; Kobbe, Robin; Dantzer, Jennifer; Alsina, Laia; Armangue, Thais; Lougaris, Vassilios; Agyeman, Philipp; Nystrom, Sofia; Buchbinder, David; Arkwright, Peter D. und Grimbacher, Bodo
(2022):
Therapeutic options for CTLA-4 insufficiency.
In: Journal of Allergy and Clinical Immunology, Bd. 149, Nr. 2: S. 736-746
Haimel, Matthias; Pazmandi, Julia; Heredia, Raul Jimenez; Dmytrus, Jasmin; Bal, Sevgi Koestel; Zoghi, Samaneh; Daele, Paul van; Briggs, Tracy A.; Wouters, Carine; Bader-Meunier, Brigitte; Aeschlimann, Florence A.; Caorsi, Roberta; Eleftheriou, Despina; Hoppenreijs, Esther; Salzer, Elisabeth; Bakhtiar, Shahrzad; Derfalvi, Beata; Saettini, Francesco; Kusters, Maaike A. A.; Elfeky, Reem; Truck, Johannes; Riviere, Jacques G.; Burg, Mirjam van der; Gattorno, Marco; Seidel, Markus G.; Burns, Siobhan; Warnatz, Klaus; Hauck, Fabian; Brogan, Paul; Gilmour, Kimberly C.; Schuetz, Catharina; Simon, Anna; Bock, Christoph; Hambleton, Sophie; Vries, Esther de; Robinson, Peter N.; Gijn, Marielle van und Boztug, Kaan
(2022):
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
In: Journal of Allergy and Clinical Immunology, Bd. 149, Nr. 1: S. 369-378
Gothe, Florian; Stremenova Spegarova, Jarmila; Hatton, Catherine F.; Griffin, Helen; Sargent, Thomas; Cowley, Sally A.; James, William; Roppelt, Anna; Shcherbina, Anna; Hauck, Fabian; Reyburn, Hugh T.; Duncan, Christopher J. A. und Hambleton, Sophie
(2022):
Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency.
In: Journal of Allergy and Clinical Immunology, Bd. 150, Nr. 4: S. 955-964
Levy, Romain; Gothe, Florian; Momenilandi, Mana; Magg, Thomas; Materna, Marie; Peters, Philipp; Rädler, Johannes; Philippot, Quentin; Rack-Hoch, Anita Lena; Langlais, David; Bourgey, Mathieu; Lanz, Anna-Lisa; Ogishi, Masato; Rosain, Jeremie; Martin, Emmanuel; Latour, Sylvain; Vladikine, Natasha; Distefano, Marco; Khan, Taushif; Rapaport, Franck; Schulz, Marian S.; Holzer, Ursula; Fasth, Anders; Sogkas, Georgios; Speckmann, Carsten; Troilo, Arianna; Bigley, Venetia; Roppelt, Anna; Dinur-Schejter, Yael; Toker, Ori; Martinsen, Karen Helene Bronken; Sherkat, Roya; Somekh, Ido; Somech, Raz; Shouval, Dror S.; Kühl, Joern-Sven; Ip, Winnie; McDermott, Elizabeth M.; Cliffe, Lucy; Ozen, Ahmet; Baris, Safa; Rangarajan, Hemalatha G.; Jouanguy, Emmanuelle; Puel, Anne; Bustamante, Jacinta; Alyanakian, Marie-Alexandra; Fusaro, Mathieu; Wang, Yi; Kong, Xiao-Fei; Cobat, Aurelie; Boutboul, David; Castelle, Martin; Aguilar, Claire; Hermine, Olivier; Cheminant, Morgane; Suarez, Felipe; Yildiran, Alisan; Bousfiha, Aziz; Al-Mousa, Hamoud; Alsohime, Fahad; Cagdas, Deniz; Abraham, Roshini S.; Knutsen, Alan P.; Fevang, Borre; Bhattad, Sagar; Kiykim, Ayca; Erman, Baran; Arikoglu, Tugba; Unal, Ekrem; Kumar, Ashish; Geier, Christoph B.; Baumann, Ulrich; Neven, Benedicte; Rohlfs, Meino; Walz, Christoph; Abel, Laurent; Malissen, Bernard; Marr, Nico; Klein, Christoph; Casanova, Jean-Laurent; Hauck, Fabian und Beziat, Vivien
(2022):
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
In: Journal of Experimental Medicine, Bd. 220, Nr. 2, e20220275
Hoshino, Akihiro; Boutboul, David; Zhang, Yuan; Kuehn, Hye Sun; Hadjadj, Jerome; Ozdemir, Nihal; Celkan, Tiraje; Walz, Christoph; Picard, Capucine; Lenoir, Christelle; Mahlaoui, Nizar; Klein, Christoph; Peng, Xiao; Azar, Antoine; Reigh, Erin; Cheminant, Morgane; Fischer, Alain; Rieux-Laucat, Frederic; Callebaut, Isabelle; Hauck, Fabian; Milner, Joshua; Rosenzweig, Sergio D. und Latour, Sylvain
(2022):
Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation.
In: Science Immunology, Bd. 7, Nr. 69, eabi7160
Albert, Michael H.; Slatter, Mary A.; Gennery, Andrew R.; Gungor, Tayfun; Bakunina, Katerina; Markovitch, Benyamin; Hazelaar, Sheree; Sirait, Tiarlan; Courteille, Virginie; Aiuti, Alessandro; Aleinikova, Olga; Balashov, Dmitry; Bernardo, Maria Ester; Bodova, Ivana; Bruno, Benedicte; Cavazzana, Marina; Chiesa, Robert; Fischer, Alain; Hauck, Fabian; Ifversen, Marianne; Kalwak, Krzysztof; Klein, Christoph; Kulagin, Alexander; Kupesiz, Alphan; Kuskonmaz, Baris; Lindemans, Caroline A.; Locatelli, Franco; Lum, Su Han; Maschan, Alexey; Meisel, Roland; Moshous, Despina; Porta, Fulvio; Sauer, Martin G.; Sedlacek, Petr; Schulz, Ansgar; Suarez, Felipe; Vallee, Tanja C.; Winiarski, Jacek H.; Zecca, Marco; Neven, Benedicte; Veys, Paul und Lankester, Arjan C.
(2022):
Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis.
In: Blood, Bd. 139, Nr. 13: S. 2066-2079
Albert, Michael H.; Sirait, Tiarlan; Eikema, Dirk-Jan; Bakunina, Katerina; Wehr, Claudia; Suarez, Felipe; Fox, Maria Laura; Mahlaoui, Nizar; Gennery, Andrew R.; Lankester, Arjan C.; Beier, Rita; Bernardo, Maria Ester; Bigley, Venetia; Lindemans, Caroline A.; Burns, Siobhan O.; Carpenter, Ben; Dybko, Jaroslaw; Gungor, Tayfun; Hauck, Fabian; Lum, Su Han; Balashov, Dmitry; Meisel, Roland; Moshous, Despina; Schulz, Ansgar; Speckmann, Carsten; Slatter, Mary A.; Strahm, Brigitte; Uckan-Cetinkaya, Duygu; Meyts, Isabelle; Vallee, Tanja C.; Wynn, Robert; Neven, Benedicte und Morris, Emma C.
(2022):
Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study.
In: Blood, Bd. 140, Nr. 14: S. 1635-1649
Momtazmanesh, Sara; Rayzan, Elham; Zoghi, Samaneh; Shahkarami, Sepideh; Molatefi, Rasol; Mohammadzadeh, Iraj; Ghaffari, Javad; Mahmoudi, Hamidreza; Dmytrus, Jasmin; Segarra-Roca, Anna; Somekh, Ido; Witzel, Maximilian; Hauck, Fabian; Boztug, Kaan; Klein, Christoph und Rezaei, Nima
(2022):
Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients.
In: Endocrine Metabolic & Immune Disorders - Drug Targets, Bd. 22, Nr. 1: S. 159-168
Kolorz, Julian; Demir, Salih; Gottschlich, Adrian; Beirith, Iris; Ilmer, Matthias; Luethy, Daniel; Walz, Christoph; Dorostkar, Mario M.; Magg, Thomas; Hauck, Fabian; Schweinitz, Dietrich von; Kobold, Sebastian; Kappler, Roland und Berger, Michael
(2022):
The Neurokinin-1 Receptor Is a Target in Pediatric Rhabdoid Tumors.
In: Current Oncology, Bd. 29, Nr. 1: S. 94-110
Ghalandary, Maryam; Li, Yue; Frohlich, 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 und Kotlarz, Daniel
(2022):
Valosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses.
In: Scientific Reports, Bd. 12, Nr. 1, 3906
Perelygina, Ludmila; Faisthalab, Raeesa; Abernathy, Emily; Chen, Min-hsin; Hao, LiJuan; Bercovitch, Lionel; Bayer, Diana K.; Noroski, Lenora M.; Lam, Michael T.; Cicalese, Maria Pia; Al-Herz, Waleed; Nanda, Arti; Hajjar, Joud; Driessche, Koen vanden; Schroven, Shari; Leysen, Julie; Rosenbach, Misha; Peters, Philipp; Raedler, Johannes; Albert, Michael H.; Abraham, Roshini S.; Rangarjan, Hemalatha G.; Buchbinder, David; Kobrynski, Lisa; Pham-Huy, Anne; Dhossche, Julie; Cunningham Rundles, Charlotte; Meyer, Anna K.; Theos, Amy; Atkinson, T. Prescott; Musiek, Amy; Adeli, Mehdi; Derichs, Ute; Walz, Christoph; Krueger, Renate; Bernuth, Horst von; Klein, Christoph; Icenogle, Joseph; Hauck, Fabian und Sullivan, Kathleen E.
(20. Dezember 2021):
Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity.
In: Frontiers in Immunology, Bd. 12, 796065
[PDF, 33MB]
Eichinger, Anna; Bernuth, Horst von; Dedieu, Cinzia; Schroeder, Sebastian A.; La Marca, Giancarlo; Albert, Michael H. und Hauck, Fabian
(2021):
Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency.
In: Journal of clinical immunology, Bd. 41, Nr. 5: S. 1112-1115
[PDF, 518kB]
Raedler, Johannes; Magg, Thomas; Rohlfs, Meino; Klein, Christoph; Vallée, Tanja; Hauck, Fabian und Albert, Michael H.
(2021):
Lineage-Specific Chimerism and Outcome After Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency.
In: Journal of clinical immunology, Bd. 41, Nr. 7: S. 1536-1548
[PDF, 2MB]
Albert, Michael H.; Sirin, Mehtap; Hoenig, Manfred; Hauck, Fabian; Schuetz, Catharina; Bhattacharyya, Rajat; Stepensky, Polina; Jacoby, Elad; Gungor, Tayfun; Beier, Rita und Schulz, Ansgar
(2021):
Salvage HLA-haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide for graft failure in non-malignant disorders.
In: Bone Marrow Transplantation, Bd. 56, Nr. 9: S. 2248-2258
Choukair, Daniela; Hauck, Fabian; Bettendorf, Markus; Krude, Heiko; Klein, Christoph; Baeumer, Tobias; Berner, Reinhard; Lee-Kirsch, Min Ae; Grasemann, Corinna; Burgard, Peter und Hoffmann, Georg F.
(2021):
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.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 474
Choukair, Daniela; Lee-Kirsch, Min Ae; Berner, Reinhard; Grasemann, Corinna; Hiort, Olaf; Hauck, Fabian; Klein, Christoph; Druschke, Diana; Hoffmann, Georg F. und Burgard, Peter
(2021):
Der klinische Versorgungspfad zur multiprofessionellen Versorgung seltener Erkrankungen in der Pädiatrie – Ergebnisse aus dem Projekt TRANSLATE-NAMSE.
In: Monatsschrift Kinderheilkunde, Bd. 170, Nr. 1: S. 52-60
Hoenig, Manfred; Roesler, Joachim; Seidel, Markus G.; Albert, Michael H.; Hauck, Fabian; Maecker-Kolhoff, Britta; Eiz-Vesper, Britta; Kleinschmidt, Katharina; Debatin, Klaus-Michael; Jacobsen, Eva-Maria; Furlan, Ingrid; Suttorp, Meinolf; Schuetz, Catharina und Schulz, Ansgar S.
(2021):
Matched Family Donor Lymphocyte Infusions as First Cellular Therapy for Patients with Severe Primary T Cell Deficiencies.
In: Transplantation and Cellular Therapy, Bd. 27, Nr. 1
Kim-Hellmuth, Sarah; Hermann, Matthias; Eilenberger, Julia; Ley-Zaporozhan, Julia; Fischer, Marcus; Hauck, Fabian; Klein, Christoph; Haas, Nikolaus; Kappler, Matthias; Hübner, Johannes; Jakob, Andre und Both, Ulrich von
(2021):
SARS-CoV-2 Triggering Severe Acute Respiratory Distress Syndrome and Secondary Hemophagocytic Lymphohistiocytosis in a 3-Year-Old Child With Down Syndrome.
In: Journal of the Pediatric Infectious Diseases Society, Bd. 10, Nr. 4: S. 543-546
Koehler, Sebastian; Gargano, Michael; Matentzoglu, Nicolas; Carmody, Leigh C.; Lewis-Smith, David; Vasilevsky, Nicole A.; Danis, Daniel; Balagura, Ganna; Baynam, Gareth; Brower, Amy M.; Callahan, Tiffany J.; Chute, Christopher G.; Est, Johanna L.; Galer, Peter D.; Ganesan, Shiva; Griese, Matthias; Haimel, Matthias; Pazmandi, Julia; Hanauer, Marc; Harris, Nomi L.; Hartnett, Michael J.; Hastreiter, Maximilian; Hauck, Fabian; He, Yongqun; Jeske, Tim; Kearney, Hugh; Kindle, Gerhard; Klein, Christoph; Knoflach, Katrin; Krause, Roland; Lagorce, David; McMurry, Julie A.; Miller, Jillian A.; Munoz-Torres, Monica C.; Peters, Rebecca L.; Rapp, Christina K.; Rath, Ana M.; Rind, Shahmir A.; Rosenberg, Avi Z.; Segal, Michael M.; Seidel, Markus G.; Smedley, Damian; Talmy, Tomer; Thomas, Yarlalu; Wiafe, Samuel A.; Xian, Julie; Yueksel, Zafer; Helbig, Ingo; Mungall, Christopher J.; Haendel, Melissa A. und Robinson, Peter N.
(2021):
The Human Phenotype Ontology in 2021.
In: Nucleic Acids Research, Bd. 49, Nr. D1:
D1207-D1217
Lanz, Anna-Lisa; Riester, Martin; Peters, Philipp; Schwerd, Tobias; Lurz, Eberhard; Hajji, Mohammad Samer; Rohlfs, Meino; Ley-Zaporozhan, Julia; Walz, Christoph; Kotlarz, Daniel; Klein, Christoph; Albert, Michael H. und Hauck, Fabian
(2021):
Abatacept for treatment-refractory pediatric CTLA4-haploinsufficiency.
In: Clinical Immunology, Bd. 229, 108779
Le Voyer, Tom; Sakata, Sonoko; Tsumura, Miyuki; Khan, Taushif; Esteve-Sole, Ana; Al-Saud, Bandar K.; Gungor, Hatice Eke; Taur, Prasad; Jeanne-Julien, Valentine; Christiansen, Mette; Koehler, Lisa-Maria; ElGhazali, Gehad Eltayeb; Rosain, Jeremie; Nishimura, Shiho; Sakura, Fumiaki; Bouaziz, Matthieu; Oleaga-Quintas, Carmen; Nieto-Patlan, Alejandro; Deya-Martinez, Angela; Torun, Yasemin Altuner; Neehus, Anna-Lena; Roynard, Manon; Bozdemir, Sefika Elmas; Al Kaabi, Nawal; Al Hassani, Moza; Mersiyanova, Irina; Rozenberg, Flore; Speckmann, Carsten; Hainmann, Ina; Hauck, Fabian; Alzahrani, Mohammed Hamdan; Alhajjar, Sami Hussain; Al-Muhsen, Saleh; Cole, Theresa; Fuleihan, Ramsay; Arkwright, Peter D.; Badolato, Raffaele; Alsina, Laia; Abel, Laurent; Desai, Mukesh; Al-Mousa, Hamoud; Shcherbina, Anna; Marr, Nico; Boisson-Dupuis, Stephanie; Casanova, Jean-Laurent; Okada, Satoshi und Bustamante, Jacinta
(2021):
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
In: Journal of Immunology, Bd. 207, Nr. 1: S. 133-152
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; Koelker, Stefan; Klein, Christoph; Hoffmann, Georg F.; Prokisch, Holger; Greil, Johann; Cerwenka, Adelheid; Giese, Thomas und Staufner, Christian
(2021):
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.
In: Journal of Clinical Immunology, Bd. 41, Nr. 8: S. 1781-1793
Magg, Thomas; Okano, Tsubasa; Koenig, Lars M.; Boehmer, Daniel F. R.; Schwartz, Samantha L.; Inoue, Kento; Heimall, Jennifer; Licciardi, Francesco; Ley-Zaporozhan, Julia; Ferdman, Ronald M.; Caballero-Oteyza, Andres; Park, Esther N.; Calderon, Brenda M.; Dey, Debayan; Kanegane, Hirokazu; Cho, Kazutoshi; Montin, Davide; Reiter, Karl; Griese, Matthias; Albert, Michael H.; Rohlfs, Meino; Gray, Paul; Walz, Christoph; Conn, Graeme L.; Sullivan, Kathleen E.; Klein, Christoph; Morio, Tomohiro und Hauck, Fabian
(2021):
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency.
In: Science Immunology, Bd. 6, Nr. 60, eabf9564
Meyts, Isabelle; Bucciol, Giorgia; Quinti, Isabella; Neven, Benedicte; Fischer, Alain; Seoane, Elena; Lopez-Grandos, Eduardo; Gianelli, Carla; Robles-Marhuenda, Angel; Jeandel, Pierre-Yves; Paillard, Catherine; Sankaran, Vijay G.; Demirdag, Yesim Yilmaz; Lougaris, Vassilios; Aiuti, Alessandro; Plebani, Alessandro; Milito, Cinzia; Dalm, Virgil A. S. H.; Guevara-Hoyer, Kissy; Sanchez-Ramon, Silvia; Bezrodnik, Liliana; Barzaghi, Federica; Ignacio Gonzalez-Granado, Luis; Hayman, Grant R.; Uzel, Gulbu; Mendonca, Leonardo Oliveira; Agostini, Carlo; Spadaro, Giuseppe; Badolato, Raffaele; Soresina, Annarosa; Vermeulen, Francois; Bosteels, Cedric; Lambrecht, Bart N.; Keller, Michael; Mustillo, Peter J.; Abraham, Roshini S.; Gupta, Sudhir; Ozen, Ahmet; Karakoc-Aydiner, Elif; Baris, Safa; Freeman, Alexandra F.; Yamazaki-Nakashimada, Marco; Scheffler-Mendoza, Selma; Espinosa-Padilla, Sara; Gennery, Andrew R.; Jolles, Stephen; Espinosa, Yazmin; Poli, M. Cecilia; Fieschi, Claire; Hauck, Fabian; Cunningham-Rundles, Charlotte; Mahlaoui, Nizar; Warnatz, Klaus; Sullivan, Kathleen E. und Tangye, Stuart G.
(2021):
Coronavirus disease 2019 in patients with inborn errors of immunity: An international study.
In: Journal of Allergy and Clinical Immunology, Bd. 147, Nr. 2: S. 520-531
Seidel, Markus G.; Tesch, Victoria K.; Yang, Linlin; Hauck, Fabian; Horn, Anna Lena; Smolle, Maria Anna; Quehenberger, Franz und Benesch, Martin
(2021):
The Immune Deficiency and Dysregulation Activity (IDDA2.1 'Kaleidoscope') Score and Other Clinical Measures in Inborn Errors of Immunity.
In: Journal of Clinical Immunology, Bd. 42, Nr. 3: S. 484-498
Seidl, Elias; Schramm, Dirk; Schoen, Carola; Reiter, Karl; Pawlita, Ingo; Kappler, Matthias; Reu-Hofer, Simone; Hauck, Fabian; Albert, Michael und Griese, Matthias
(2021):
Pulmonary alveolar proteinosis due to heterozygous mutation in OAS1: Whole lung lavages for long-term bridging to hematopoietic stem cell transplantation.
In: Pediatric Pulmonology, Bd. 57, Nr. 1: S. 273-277
Yilmaz, Ebru; Kuehn, Hye S.; Odakir, Eda; Niemela, Julie E.; Ozcan, Alper; Eken, Ahmet; Rohlfs, Meino; Cansever, Murat; Gok, Veysel; Aydin, Firdevs; Karakukcu, Musa; Hauck, Fabian; Klein, Christoph; Unal, Ekrem; Rosenzweig, Sergio D. und Patiroglu, Turkan
(2021):
Common Variable Immunodeficiency, Autoimmune Hemolytic Anemia, and Pancytopenia Associated With a Defect in IKAROS.
In: Journal of Pediatric Hematology Oncology, Bd. 43, Nr. 3, E351-E357
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; Flier, Michiel van der; Aerde, Koen van; Kilic, Sara S.; Reda, Shereen M.; Kostyuchenko, Larysa; McDermott, Elizabeth; Galal, Nermeen; Pignata, Claudio; Perez, Juan Luis Santos; Laws, Hans-Jürgen; Niehues, Tim; Kutukculer, Necil; Seidel, Markus G.; Marques, Laura; Ciznar, Peter; Edgar, John David M.; Soler-Palacin, Pere; Bernuth, Horst von; Krueger, Renate; Meyts, Isabelle; Baumann, Ulrich; Kanariou, Maria; Grimbacher, Bodo; Hauck, Fabian; Graf, Dagmar; Granado, Luis Ignacio Gonzalez; Prader, Seraina; Reisli, Ismail; Slatter, Mary; Rodriguez-Gallego, Carlos; Arkwright, Peter D.; Bethune, Claire; Deripapa, Elena; Sharapova, Svetlana O.; Lehmberg, Kai; Davies, E. Graham; Schuetz, Catharina; Kindle, Gerhard und Schubert, Ralf
(2021):
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.
In: Journal of Clinical Immunology, Bd. 41, Nr. 8: S. 1878-1892
Chiesa, Robert; Wang, Junfeng; Blok, Henric-Jan; Hazelaar, Sheree; Neven, Benedicte; Moshous, Despina; Schulz, Ansgar; Hoenig, Manfred; Hauck, Fabian; Al Seraihy, Amal; Gozdzik, Jolanta; Ljungman, Per; Lindemans, Caroline A.; Fernandes, Juliana F.; Kalwak, Krzysztof; Strahm, Brigitte; Schanz, Urs; Sedlacek, Petr; Sykora, Karl-Walter; Aksoylar, Serap; Locatelli, Franco; Stepensky, Polina; Wynn, Robert; Lurn, Su Han; Zecca, Marco; Porta, Fulvio; Taskinen, Mervi; Gibson, Brenda; Matthes, Susanne; Karakukcu, Musa; Hauri-Hohl, Mathias; Veys, Paul; Gennery, Andrew R.; Lucchini, Giovanna; Felber, Matthias; Albert, Michael H.; Balashov, Dmitry; Lankester, Arjan; Gungor, Tayfun und Slatter, Mary A.
(2020):
Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults.
In: Blood, Bd. 136, Nr. 10: S. 1201-1211
Felber, Matthias; Steward, Cohn G.; Kentouche, Karim; Fasth, Anders; Wynn, Robert F.; Zeilhofer, Ulrike; Haunerdinger, Veronika; Volkmer, Benjamin; Prader, Seraina; Gruhn, Bernd; Ehl, Stephan; Lehmberg, Kai; Müller, Daniel; Gennery, Andrew R.; Albert, Michael H.; Hauck, Fabian; Rao, Kanchan; Veys, Paul; Hassan, Moustapha; Lankester, Arjan C.; Schmid, Jana Pachlopnik; Hauri-Hohl, Mathias M. und Guengoer, Tayfun
(2020):
Targeted busulfan-based reduced-intensity conditioning and HLA-matched HSCT cure hemophagocytic lymphohistiocytosis.
In: Blood Advances, Bd. 4, Nr. 9: S. 1998-2010
Ghosh, Sujal; Bal, Sevgi Koestel; Edwards, Emily S. J.; Pillay, Bethany; Heredia, Raul Jimenez; Cipe, Funda Erol; Rao, Geetha; Salzer, Elisabeth; Zoghi, Samaneh; Abolhassani, Hassan; Momen, Tooba; Gostick, Emma; Price, David A.; Zhang, Yu; Oler, Andrew J.; Gonzaga-Jauregui, Claudia; Erman, Baran; Metin, Ayse; Ilhan, Inci; Haskologlu, Sule; Islamoglu, Candan; Baskin, Kubra; Ceylaner, Serdar; Yilmaz, Ebru; Unal, Ekrem; Karakukcu, Musa; Berghuis, Dagmar; Cole, Theresa; Gupta, Aditya K.; Hauck, Fabian; Kogler, Hubert; Hoepelman, Andy I. M.; Baris, Safa; Karakoc-Aydiner, Elif; Ozen, Ahmet; Kager, Leo; Holzinger, Dirk; Paulussen, Michael; Krueger, Renate; Meisel, Roland; Oommen, Prasad T.; Morris, Emma; Neven, Benedicte; Worth, Austen; Montfrans, Joris van; Fraaij, Pieter L. A.; Choo, Sharon; Dogu, Figen; Davies, E. Graham; Burns, Siobhan; Duckers, Gregor; Becker, Ruy Perez; von Bernuth, Horst; Latour, Sylvain; Faraci, Maura; Gattorno, Marco; Su, Helen C.; Pan-Hammarstroem, Qiang; Hammarstroem, Lennart; Lenardo, Michael J.; Ma, Cindy S.; Niehues, Tim; Aghamohammadi, Asghar; Rezaei, Nima; Ikinciogullari, Aydan; Tangye, Stuart G.; Lankester, Arjan C. und Boztug, Kaan
(2020):
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.
In: Blood, Bd. 136, Nr. 23: S. 2638-2655
Dedieu, Cinzia; Albert, Michael H.; Mahlaoui, Nizar; Hauck, Fabian; Hedrich, Christian; Baumann, Ulrich; Warnatz, Klaus; Roesler, Joachim; Speckmann, Carsten; Schulte, Johannes; Fischer, Alain; Blanche, Stephane; Bernuth, Horst von und Kuehl, Joern-Sven
(2020):
Outcome of chronic granulomatous disease - Conventional treatment vs stem cell transplantation.
In: Pediatric Allergy and Immunology
Staufner, Christian; Peters, Bianca; Wagner, Matias; Alameer, Seham; Baric, Ivo; Broue, Pierre; Bulut, Derya; Church, Joseph A.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dick, Anke; Dikow, Nicola; Dionisi-Vici, Carlo; Distelmaier, Felix; Bozbulut, Neslihan Eksi; Feillet, Francois; 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, Rene; Palafoll, Irene Valenzuela; Vockley, Jerry; Westphal, Dominik S.; Wiedemann, Arnaud; Wortmann, Saskia B.; Diwan, Gaurav D.; Russell, Robert B.; Prokisch, Holger; Garbade, Sven F.; Koelker, Stefan; Hoffmann, Georg F. und Lenz, Dominic
(2020):
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
In: Genetics in Medicine, Bd. 22, Nr. 3: S. 610-621
Boehmer, Daniel F. R.; Koehler, Lisa M.; Magg, Thomas; Metzger, Philipp; Rohlfs, Meino; Ahlfeld, Julia; Rack-Hoch, Anita; Reiter, Karl; Albert, Michael H.; Endres, Stefan; Rothenfusser, Simon; Klein, Christoph; König, Lars M. und Hauck, Fabian
(2020):
A Novel Complete Autosomal-Recessive STAT1 LOF Variant Causes Immunodeficiency with Hemophagocytic Lymphohistiocytosis-Like Hyperinflammation.
In: Journal of Allergy and Clinical Immunology-in Practice, Bd. 8, Nr. 9: S. 3102-3111
Wang, Huijun; Humbatova, Aytaj; Liu, Yuanxiang; Qin, Wen; Lee, Mingyang; Cesarato, Nicole; Kortuem, Fanny; Kumar, Sheetal; Romano, Maria Teresa; Dai, Shangzhi; Mo, Ran; Sivalingam, Sugirthan; Motameny, Susanne; Wu, Yuan; Wang, Xiaopeng; Niu, Xinwu; Geng, Songmei; Bornholdt, Dorothea; Kroisel, Peter M.; Tadini, Gianluca; Walter, Scott D.; Hauck, Fabian; Girisha, Katta M.; Calza, Anne-Marie; Bottani, Armand; Altmueller, Janine; Buness, Andreas; Yang, Shuxia; Sun, Xiujuan; Ma, Lin; Kutsche, Kerstin; Grzeschik, Karl-Heinz; Betz, Regina C. und Lin, Zhimiao
(2020):
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
In: American Journal of Human Genetics, Bd. 107, Nr. 1: S. 34-45
Shai, Sonu; Perez-Becker, Ruy; Andres, Oliver; Bakhtiar, Shahrzad; Bauman, Ulrich; von Bernuth, Horst; Classen, Carl-Friedrich; Dueckers, Gregor; El-Helou, Sabine M.; Gangfuss, Andrea; Ghosh, Sujal; Grimbacher, Bodo; Hauck, Fabian; Hoenig, Manfred; Husain, Ralf A.; Kindle, Gerhard; Kipfmueller, Florian; Klemann, Christian; Krueger, Renate; Lainka, Elke; Lehmberg, Kai; Lohrmann, Florens; Morbach, Henner; Naumann-Bartsch, Nora; Oommen, Prasad Thomas; Schulz, Ansgar; Seidemann, Kathrin; Speckmann, Carsten; Sykora, Karl-Walter; Kries, Rüdiger von und Niehues, Tim
(2020):
Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit fur Seltene Padiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Padiatrische Immunologie.
In: Journal of Clinical Immunology, Bd. 40, Nr. 5: S. 708-717
Heller, Stephanie; Koelsch, Uwe; Magg, Thomas; Krueger, Renate; Scheuern, Andrea; Schneider, Holm; Eichinger, Anna; Wahn, Volker; Unterwalder, Nadine; Lorenz, Myriam; Schwarz, Klaus; Meisel, Christian; Schulz, Ansgar; Hauck, Fabian und Bernuth, Horst von
(2020):
T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.
In: Journal of Clinical Immunology, Bd. 40, Nr. 3: S. 421-434
Hanitsch, Leif; Baumann, Ulrich; Boztug, Kaan; Burkhard-Meier, Ulrike; Fasshauer, Maria; Habermehl, Pirmin; Hauck, Fabian; Klock, Gerd; Liese, Johannes; Meyer, Oliver; Müller, Rainer; Pachlopnik-Schmid, Jana; Pfeiffer-Kascha, Dorothea; Warnatz, Klaus; Wehr, Claudia; Wittke, Kirsten; Niehues, Tim und Bernuth, Horst von
(2020):
Treatment and management of primary antibody deficiency: German interdisciplinary evidence-based consensus guideline.
In: European Journal of Immunology, Bd. 50, Nr. 10: S. 1432-1446
Bitar, Michael; Boettcher, Marcus; Boldt, Andreas; Hauck, Fabian; Koehl, Ulrike; Liebert, Uwe G.; Magg, Thomas; Schulz, Marian S. und Sack, Ulrich
(2020):
Flow cytometric measurement of STAT5 phosphorylation in cytomegalovirus-stimulated T cells.
In: Cytometry Part A, Bd. 99, Nr. 8: S. 774-783
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; 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.; Uelzen, Anett; Bader, Peter; Bakhtiar, Shahrzad; Lee, Jae-Yun; Hess, Ursula; Schubert, Ralf; Woelke, Sandra; Zielen, Stefan; Ghosh, Sujal; Laws, Hans-Jürgen; 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.; Müller, Christiane; Roesen-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; Huelsmann, 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; Muenstermann, 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 und Grimbacher, Bodo
(19. Juli 2019):
The German National Registry of Primary Immunodeficiencies (2012-2017).
In: Frontiers in Immunology, Bd. 10, 1272: S. 1-25
[PDF, 2MB]
Buchbinder, David; Hauck, Fabian; Albert, Michael H.; Rack, Anita; Bakhtiar, Shahrzad; Shcherbina, Anna; Deripapa, Elena; Sullivan, Kathleen E.; Perelygina, Ludmila; Eloit, Marc; Neven, Benedicte; Perot, Philippe; Moshous, Despina; Suarez, Felipe; Bodemer, Christine; Bonilla, Francisco A.; Vaz, Louise E.; Krol, Alfons L.; Klein, Christoph; Seppanen, Mikko; Nugent, Diane J.; Singh, Jasjit und Ochs, Hans D.
(2019):
Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders.
In: Journal of Clinical Immunology, Bd. 39, Nr. 1: S. 81-89
Magg, Thomas; Shcherbina, Anna; Arslan, Duran; Desai, Mukesh M.; Wall, Sarah; Mitsialis, Vanessa; Conca, Raffaele; Unal, Ekrem; Karacabey, Neslihan; Mukhina, Anna; Rodina, Yulia; Taur, Prasad D.; Illig, David; Marquardt, Benjamin; Hollizeck, Sebastian; Jeske, Tim; Gothe, Florian; Schober, Tilmann; Rohlfs, Meino; Koletzko, Sibylle; Lurz, Eberhard; Muise, Aleixo M.; Snapper, Scott B.; Hauck, Fabian; Klein, Christoph und Kotlarz, Daniel
(2019):
CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease.
In: Inflammatory Bowel Diseases, Bd. 25, Nr. 11: S. 1788-1795
Somekh, Ido; Thian, Marini; Medgyesi, David; Gulez, Nesrin; Magg, Thomas; Gallon Duque, Alejandro; Stauber, Tali; Lev, Atar; Genel, Ferah; Unal, Ekrem; Simon, Amos J.; Lee, Yu Nee; Kalinichenko, Artem; Dmytrus, Jasmin; Kraakman, Michael J.; Schiby, Ginette; Rohlfs, Meino; Jacobson, Jeffrey M.; Ozer, Erdener; Akcal, Omer; Conca, Raffaele; Patiroglu, Turkan; Karakukcu, Musa; Ozcan, Alper; Shahin, Tala; Appella, Eliana; Tatematsu, Megumi; Martinez-Jaramillo, Catalina; Chinn, Ivan K.; Orange, Jordan S.; Milena Trujillo-Vargas, Claudia; Luis Franco, Jose; Hauck, Fabian; Somech, Raz; Klein, Christoph und Boztug, Kaan
(2019):
CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.
In: Blood, Bd. 134, Nr. 18: S. 1510-1516
Hospach, Toni; Glowatzki, Fabian; Blankenburg, Friederike; Conzelmann, Dennis; Stirnkorb, Christian; Müllerschön, Chris Sandra; Driesch, Peter von den; Köhler, Lisa Maria; Rohlfs, Meino; Klein, Christoph und Hauck, Fabian
(2019):
Scoping review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents.
In: Pediatric Rheumatology, Bd. 17, 37
Tometten, Inga; Felgentreff, Kerstin; Hoenig, Manfred; Hauck, Fabian; Albert, Michael H.; Niehues, Tim; Perez, Ruy; Ghosh, Sujal; Picard, Capucine; Stary, Jan; Formankova, Renata; Worth, Austen; Soler-Palacin, Pere; Garcia-Prat, Marina; Allende, Luis M.; Gonzalez-Granado, Luis Ignacio; Stepensky, Polina; Di Cesare, Silvia; Scarselli, Alessia; Cancrini, Caterina; Speckmann, Carsten; Gilmour, Kimberly; Notarangelo, Luigi; Ehl, Stephan und Rohr, Jan C.
(2019):
Increased proportions of gamma delta T lymphocytes in atypical SCID associate with disease manifestations.
In: Clinical Immunology, Bd. 201: S. 30-34
Perelygina, Ludmila; Buchbinder, David; Dorsey, Morna J.; Eloit, Marc; Hauck, Fabian; Hautala, Timo; Moshous, Despina; Uriarte, Ignacio; Deripapa, Elena; Icenogle, Joseph und Sullivan, Kathleen E.
(2019):
Outcomes for Nitazoxanide Treatment in a Case Series of Patients with Primary Immunodeficiencies and Rubella Virus-Associated Granuloma.
In: Journal of Clinical Immunology, Bd. 39, Nr. 1: S. 112-117
Boutboul, David; Kuehn, Hye Sun; Wyngaert, Zoe van de; Niemela, Julie E.; Callebaut, Isabelle; Stoddard, Jennifer; Lenoir, Christelle; Barlogis, Vincent; Farnarier, Catherine; Vely, Frederic; Yoshida, Nao; Kojima, Seiji; Kanegane, Hirokazu; Hoshino, Akihiro; Hauck, Fabian; Lhermitte, Ludovic; Asnafi, Vahid; Roehrs, Philip; Chen, Shaoying; Verbsky, James W.; Calvo, Katherine R.; Husami, Ammar; Zhang, Kejian; Roberts, Joseph; Amrol, David; Sleaseman, John; Hsu, Amy P.; Holland, Steven M.; Marsh, Rebecca; Fischer, Alain; Fleisher, Thomas A.; Picard, Capucine; Latour, Sylvain und Rosenzweig, Sergio D.
(2018):
Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.
In: Journal of Clinical Investigation, Bd. 128, Nr. 7: S. 3071-3087
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.; Dogu, Figen; Gaspar, Hubert B.; Geha, Raif S.; Gennery, Andrew R.; Hauck, Fabian; Hawwari, Abbas; Hickstein, Dennis D.; Hönig, 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.; Montfrans, Joris van; Woessmann, Wilhelm; Ziegler, John B. und Albert, Michael H.
(2018):
Hematopoietic stem cell transplantation as treatment for patients with DOCK8 deficiency.
In: Journal of Allergy and Clinical Immunology
Magg, Thomas; Wiebking, Volker; Conca, Raffaele; Krebs, Stefan; Arens, Stefan; Schmid, Irene; Klein, Christoph; Albert, Michael H. und Hauck, Fabian
(2018):
IPEX due to an exon 7 skipping FOXP3 mutation with autoimmune diabetes mellitus cured by selective T-Reg cell engraftment.
In: Clinical Immunology, Bd. 191: S. 52-58
Kotlarz, Daniel; Marquardt, Benjamin; Baroy, Tuva; Lee, Way S.; Konnikova, Liza; Hollizeck, Sebastian; Magg, Thomas; Lehle, Anna S.; Walz, Christoph; Borggraefe, Ingo; Hauck, Fabian; Bufler, Philip; Conca, Raffaele; Wall, Sarah M.; Schumacher, Eva M.; Misceo, Doriana; Frengen, Eirik; Bentsen, Beint S.; Uhlig, Holm H.; Hopfner, Karl-Peter; Muise, Aleixo M.; Snapper, Scott B.; Stromme, Petter und Klein, Christoph
(2018):
Human TGF-beta 1 deficiency causes severe inflammatory bowel disease and encephalopathy.
In: Nature Genetics, Bd. 50, Nr. 3: S. 344-348
Schwab, Charlotte; Gabrysch, Annemarie; Olbrich, Peter; Patino, 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, Desiree; 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; Veerdonk, Frank L. van de; Recher, Mike; Albert, Michael H.; Hauck, Fabian; Seneviratne, Suranjith; Schmid, Jana Pachlopnik; 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; Dueckers, Gregor; Niehues, Tim; Fronkova, Eva; Kanderova, Veronika; Platt, Craig D.; Chou, Janet; Chatila, Talal A.; Geha, Raif; McDermott, Elizabeth; Bunn, Su; Kurzai, Monika; Schulz, Ansgar; Alsina, Laia; Casals, Ferran; Deya-Martinez, Angela; Hambleton, Sophie; Kanegane, Hirokazu; Tasken, Kjetil; Neth, Olaf und Grimbacher, Bodo
(2018):
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.
In: Journal of Allergy and Clinical Immunology, Bd. 142, Nr. 6: S. 1932-1946
Magg, Thomas; Schober, Tilmann; Walz, Christoph; Ley-Zaporozhan, Julia; Facchetti, Fabio; Klein, Christoph und Hauck, Fabian
(2018):
Epstein–Barr Virus+ Smooth Muscle Tumors as Manifestation of Primary Immunodeficiency Disorders.
In: Frontiers in Immunology, Bd. 9, 368
[PDF, 567kB]
Bomken, Simon; Werff Ten Bosch, Jutte van der; Attarbaschi, Andishe; Bacon, Chris M.; Borkhardt, Arndt; Boztug, Kaan; Fischer, Ute; Hauck, Fabian; Kuiper, Roland P.; Lammens, Tim; Loeffen, Jan; Neven, Benedicte; Pan-Hammarstrom, Qiang; Quinti, Isabella; Seidel, Markus G.; Warnatz, Klaus; Wehr, Claudia; Lankester, Arjan C. und Gennery, Andrew R.
(2018):
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.
In: Frontiers in Immunology, Bd. 9, 2912
[PDF, 803kB]
Speckmann, Carsten; Doerken, Sam; Aiuti, Alessandro; Albert, Michael H.; Al-Herz, Waleed; Allende, Luis M.; Scarselli, Alessia; Avcin, Tadej; Perez-Becker, Ruy; Cancrini, Caterina; Cant, Andrew; Cesare, Silvia di; Finocchi, Andrea; Fischer, Alain; Gaspar, H. Bobby; Ghosh, Sujal; Gennery, Andrew; Gilmour, Kimberly; Gonzalez-Granado, Luis I.; Martinez-Gallo, Monica; Hambleton, Sophie; Hauck, Fabian; Hoenig, Manfred; Moshous, Despina; Neven, Benedicte; Niehues, Tim; Notarangelo, Luigi; Picard, Capucine; Rieber, Nikolaus; Schulz, Ansgar; Schwarz, Klaus; Seidel, Markus G.; Soler-Palacin, Pere; Stepensky, Polina; Strahm, Brigitte; Vraetz, Thomas; Warnatz, Klaus; Winterhalter, Christine; Worth, Austen; Fuchs, Sebastian; Uhlmann, Annette und Ehl, Stephan
(2017):
A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.
In: Journal of Allergy and Clinical Immunology, Bd. 139, Nr. 4: S. 1302-1310
Krüger, Renate; Hanitsch, Leif G.; Leistner, Rasmus; Schneider-Burrus, Sylke; Hoppe, Pia-Alice; Steinberg, Sylvia; Hauck, Fabian und Bernuth, Horst von
(2017):
Scabies, Periorbital Cellulitis and Recurrent Skin Abscesses due to Panton-Valentine Leukocidin-Positive Staphylococcus aureus Mimic Hyper IgE Syndrome in an Infant.
In: Pediatric infectious Disease Journal, Bd. 36, Nr. 12, E347-E348
[PDF, 53kB]
Hauck, Fabian; Magg, Thomas; Krolo, Ana; Bilic, Ivan; Hirschmugl, Tatjana; Laass, Martin; Rösen-Wolff, Angela; Luksch, Hella; Boztug, Kaan und Rösler, Joachim
(2017):
Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma.
In: Klinische Pädiatrie, Bd. 229, Nr. 3: S. 113-117
Hauck, Fabian; Wiebking, Volker; Notheis, Gundula; Aumann, Volker; Koletzko, Sibylle; Belohradsky, Bernd H.; Renner, Ellen; Fuehrer, Monika; Tischer, Johanna; Klein, Christoph; Schmid, Irene und Albert, Michael H.
(2016):
Outcome of hematopoietic stem cell transplantation in adolescents and young adults with non-scid primary immunodeficiencies (PID).
In: Journal of Clinical Immunology, Bd. 36, Nr. 3: S. 267
Hauck, Fabian; Koletzko, Sibylle; Walz, Christoph; Bernuth, Horst von; Klenk, Anne; Schmid, Irene; Belohradsky, Bernd H.; Klein, Christoph; Bufler, Philip und Albert, Michael H.
(2016):
Diagnostic and Treatment Options for Severe IBD in Female X-CGD Carriers with Non-random X-inactivation.
In: Journal of Crohns & Colitis, Bd. 10, Nr. 1: S. 112-115
Lévy, Romain; Okada, Satoshi; Béziat, Vivien; Moriya, Kunihiko; Liu, Caini; Chai, Louis Yi Ann; Migaud, Mélanie; Hauck, Fabian; Al Ali, Amein; Cyrus, Cyril; Vatte, Chittibabu; Patiroglu, Turkan; Unal, Ekrem; Ferneiny, Marie; Hyakuna, Nobuyuki; Nepesov, Serdar; Oleastro, Matias; Ikinciogullari, Aydan; Dogu, Figen; Asano, Takaki; Ohara, Osamu; Yun, Ling; Della Mina, Erika; Bronnimann, Didier; Itan, Yuval; Gothe, Florian; Bustamante, Jacinta; Boisson-Dupuis, Stephanie; Tahuil, Natalia; Aytekin, Caner; Salhi, Aicha; Al Muhsen, Saleh; Kobayashi, Masao; Toubiana, Julie; Abel, Laurent; Li, Xiaoxia; Camcioglu, Yildiz; Celmeli, Fatih; Klein, Christoph; AlKhater, Suzan A.; Casanova, Jean-Laurent und Puel, Anne
(2016):
Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.
In: Proceedings of the National Academy of Sciences of the United States of America, Bd. 113, Nr. 51, E8277-E8285
Albert, Michael H.; Wiebking, Volker; Notheis, Gundula; Hauck, Fabian; Aumann, Volker; Koletzko, Sibylle; Belohradsky, Bernd H.; Führer, Monika; Renner, Ellen D.; Tischer, Johanna; Klein, Christoph und Schmid, Irene
(2016):
Outcome of HSCT in Adolescents and Young Adults with Non-SCID Primary Immunodeficiencies.
In: Biology of Blood and Marrow Transplantation, Bd. 22, Nr. 3:
S235-S235
Janda, Ales; Schwarz, Klaus; Burg, Mirjam van der; Vach, Werner; Ijspeert, Hanna; Lorenz, Myriam Ricarda; Elgizouli, Magdeldin; Pieper, Kathrin; Fisch, Paul; Hagel, Joachim; Lorenzetti, Raquel; Seidl, Maximilian; Roesler, Joachim; Hauck, Fabian; Traggiai, Elisabetta; Speckmann, Carsten; Rensing-Ehl, Anne; Ehl, Stephan; Eibel, Hermann und Rizzi, Marta
(2016):
Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome.
In: Blood, Bd. 127, Nr. 18: S. 2193-2202
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