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Journal article

Schillok, Hannah ORCID logoORCID: https://orcid.org/0000-0001-6160-2847; Coenen, Michaela ORCID logoORCID: https://orcid.org/0000-0001-7492-7907; Rehfuess, Eva A. ORCID logoORCID: https://orcid.org/0000-0002-4318-8846; Kuhlmann, Pia H.; Matl, Stefan; Kindermann, Hannah; Maison, Nicole; Eckert, Jana; Both, Ulrich von; Behrends, Uta; Frühwald, Michael C.; Neubert, Antje; Woelfle, Joachim; Melter, Michael; Liese, Johannes; Hübner, Johannes; Klein, Christoph; Kern, Anna and Jung-Sievers, Caroline ORCID logoORCID: https://orcid.org/0000-0003-2133-4766 (2023): Changes in behavior and quality of life in German young children during the COVID-19 pandemic—results from the COVID kids bavaria study. In: Frontiers in Pediatrics, Vol. 11 [PDF, 330kB]

Hummel, Julia; Voss, Stephan; Clark, Holly; Coenen, Michaela ORCID logoORCID: https://orcid.org/0000-0001-7492-7907; Klein, Christoph; Rehfuess, Eva A. ORCID logoORCID: https://orcid.org/0000-0002-4318-8846; Rhein, Valerie zu; Voigt-Blaurock, Varinka and Jung-Sievers, Caroline ORCID logoORCID: https://orcid.org/0000-0003-2133-4766 (2023): Implementing a psychosocial care approach in pediatric inpatient care: process evaluation of the pilot Child Life Specialist program at the University Hospital of Munich, Germany. In: Frontiers in Pediatrics, Vol. 11 [PDF, 745kB]

Kern, Anna; Kuhlmann, Pia H.; Matl, Stefan; Ege, Markus; Maison, Nicole; Eckert, Jana; von Both, Ulrich; Behrends, Uta; Anger, Melanie; Frühwald, Michael C.; Gerstlauer, Michael; Woelfle, Joachim; Neubert, Antje; Melter, Michael; Liese, Johannes; Goettler, David; Sing, Andreas; Liebl, Bernhard; Hübner, Johannes and Klein, Christoph (6. July 2022): Surveillance of Acute SARS-CoV-2 Infections in Elementary Schools and Daycare Facilities in Bavaria, Germany (09/2020–03/2021). In: Frontiers in Pediatrics, Vol. 10 [PDF, 1MB]

Fan, Yanxin; Murgia, Marta; Linder, Monika; Mizoguchi, Yoko; Wang, Cong; Lyszkiewicz, Marcin; Zietara, Natalia; Liu, Yanshan; Frenz, Stephanie; Sciuccati, Gabriela; Partida-Gaytan, Armando; Alizadeh, Zahra; Rezaei, Nima; Rehling, Peter; Dennerlein, Sven; Mann, Matthias and Klein, Christoph (2022): HAX1-dependent control of mitochondrial proteostasis governs neutrophil granulocyte differentiation. In: Journal of Clinical Investigation, Vol. 132, No. 9 [PDF, 4MB]

Tangye, Stuart G.; Al-Herz, Waleed; Bousfiha, Aziz; Cunningham-Rundles, Charlotte; Franco, Jose Luis; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Oksenhendler, Eric; Picard, Capucine; Puel, Anne; Puck, Jennifer; Seppanen, Mikko R. J.; Somech, Raz; Su, Helen C.; Sullivan, Kathleen E.; Torgerson, Troy R. and Meyts, Isabelle (2022): Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. In: Journal of Clinical Immunology, Vol. 42, No. 7: pp. 1473-1507

Bousfiha, Aziz; Moundir, Abderrahmane; Tangye, Stuart G.; Picard, Capucine; Jeddane, Leila; Al-Herz, Waleed; Rundles, Charlotte C.; Franco, Jose Luis; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Oksenhendler, Eric; Puel, Anne; Puck, Jennifer; Seppanen, Mikko R. J.; Somech, Raz; Su, Helen C.; Sullivan, Kathleen E.; Torgerson, Troy R. and Meyts, Isabelle (2022): The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. In: Journal of Clinical Immunology, Vol. 42, No. 7: pp. 1508-1520

Aschenbrenner, Dominik; Ye, Ziqing; Zhou, Ying; Hu, Wenhui; Brooks, Isabel; Williams, Isabelle; Capitani, Melania; Gartner, Lisa; Kotlarz, Daniel; Snapper, Scott B.; Klein, Christoph; Muise, Aleixo M.; Marsden, Brian D.; Huang, Ying and Uhlig, Holm H. (2022): Pathogenic Interleukin-10 Receptor Alpha Variants in Humans - Balancing Natural Selection and Clinical Implications. In: Journal of Clinical Immunology, Vol. 43, No. 2: pp. 495-511

He, Gui-Wei; Lin, Lin; DeMartino, Jeff; Zheng, Xuan; Staliarova, Nadzeya; Dayton, Talya; Begthel, Harry; Wetering, Willine J. van de; Bodewes, Eduard; Zon, Jeroen van; Tans, Sander; Lopez-Iglesias, Carmen; Peters, Peter J.; Wu, Wei; Kotlarz, Daniel; Klein, Christoph; Margaritis, Thanasis; Holstege, Frank and Clevers, Hans (2022): Optimized human intestinal organoid model reveals interleukin-22-dependency of paneth cell formation. In: Cell Stem Cell, Vol. 29, No. 9: pp. 1333-1345

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 and Beziat, Vivien (2022): Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. In: Journal of Experimental Medicine, Vol. 220, No. 2, e20220275

Collen, Lauren V.; Kim, David Y.; Field, Michael; Okoroafor, Ibeawuchi; Saccocia, Gwen; Whitcomb, Sydney Driscoll; Green, Julia; Dong, Michelle Dao; Barends, Jared; Carey, Bridget; Weatherly, Madison E.; Rockowitz, Shira; Sliz, Piotr; Liu, Enju; Eran, Alal; Grushkin-Lerner, Leslie; Bousvaros, Athos; Muise, Aleixo M.; Klein, Christoph; Mitsialis, Vanessa; Ouahed, Jodie and Snapper, Scott B. (2022): Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease. In: Journal of Crohns & Colitis, Vol. 16, No. 9: pp. 1380-1396

Chongsrisawat, Voranush; Suratannon, Narissara; Chatchatee, Pantipa; Ittiwut, Rungnapa; Ittiwut, Chupong; Weerapakorn, Wanlapa; Theamboonlers, Apiradee; Rohlfs, Meino; Klein, Christoph; Kotlarz, Daniel and Suphapeetiporn, Kanya (2022): Novel CD55 Mutation Associated With Severe Small Bowel Ulceration Mimicking Inflammatory Bowel Disease in a Pair of Siblings. In: Inflammatory Bowel Diseases, Vol. 28, No. 9: pp. 1458-1461

Köse, Dogan; Güzelcicek, Ahmet; Öz, Özlem; Erdem, Arzu Y.; Haliloglu, Yesim; Witzel, Maximilian; Klein, Christoph and Ünal, Ekrem (2022): The Mutation of CD27 Deficiency Presented With Familial Hodgkin Lymphoma and a Review of the Literature. In: Journal of Pediatric Hematology Oncology, Vol. 44, No. 4, E833-E843

Velez-Tirado, Natalia; Yamazaki-Nakashimada, Marco Antonio; Lopez Valentin, Enrique; Partida-Gaytan, Armando; Scheffler-Mendoza, Selma C.; Chaia Semerena, Genny M.; Alvarez-Cardona, Aristoteles; Suarez Gutierrez, Marcos Alejandro; Medina Torres, Edgar Alejandro; Baeza Capetillo, Patricia; Hirschmugl, Tatjana; Garncarz, Wojciech; Espinosa-Padilla, Sara Elva; Aguirre Hernandez, Jesus; Klein, Christoph; Boztug, Kaan and Lugo Reyes, Saul O. (2022): Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review. In: Scandinavian Journal of Immunology, Vol. 95, No. 4, e13136

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. and Latour, Sylvain (2022): Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation. In: Science Immunology, Vol. 7, No. 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 and Lankester, Arjan C. (2022): Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis. In: Blood, Vol. 139, No. 13: pp. 2066-2079

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 and Rezaei, Nima (2022): Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients. In: Endocrine Metabolic & Immune Disorders - Drug Targets, Vol. 22, No. 1: pp. 159-168

Sadeghmousavi, Shaghayegh; Shahkarami, Sepideh; Rayzan, Elham; Ahmed, Souran; Gharalari, Farzaneh Hosseini; Rohlfs, Meino; Klein, Christoph and Rezaei, Nima (2022): A 3-Year-Old Boy with an Xp21 Deletion Syndrome: A Case Report. In: Endocrine Metabolic & Immune Disorders - Drug Targets, Vol. 22, No. 8: pp. 881-887

Bolton, Chrissy; Smillie, Christopher S.; Pandey, Sumeet; Elmentaite, Rasa; Wei, Gabrielle; Argmann, Carmen; Aschenbrenner, Dominik; James, Kylie R.; McGovern, Dermot P. B.; Macchi, Marina; Cho, Judy; Shouval, Dror S.; Kammermeier, Jochen; Koletzko, Sibylle; Bagalopal, Krithika; Capitani, Melania; Cavounidis, Athena; Pires, Elisabete; Weidinger, Carl; McCullagh, James; Arkwright, Peter D.; Haller, Wolfram; Siegmund, Britta; Peters, Lauren; Jostins, Luke; Travis, Simon P. L.; Anderson, Carl A.; Snapper, Scott; Klein, Christoph; Schadt, Eric; Zilbauer, Matthias; Xavier, Ramnik; Teichmann, Sarah; Muise, Aleixo M.; Regev, Aviv and Uhlig, Holm H. (2022): An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease. In: Gastroenterology, Vol. 162, No. 3: pp. 859-876

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 and Kotlarz, Daniel (2022): Valosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses. In: Scientific Reports, Vol. 12, No. 1, 3906

Nambu, Ryusuke; Warner, Neil; Mulder, Daniel J.; Kotlarz, Daniel; McGovern, Dermot P. B.; Cho, Judy; Klein, Christoph; Snapper, Scott B.; Griffiths, Anne M.; Iwama, Itaru and Muise, Aleixo M. (2022): A Systematic Review of Monogenic Inflammatory Bowel Disease. In: Clinical Gastroenterology and Hepatology, Vol. 20, No. 4, E653-E663

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 and Sullivan, Kathleen E. (20. December 2021): Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity. In: Frontiers in Immunology, Vol. 12, 796065 [PDF, 33MB]

Hummel, Julia; Coenen, Michaela; Voigt-Blaurock, Varinka; Klein, Christoph and Jung-Sievers, Caroline (2021): „Child Life Specialist“-Interventionen in der klinischen pädiatrischen Versorgung: Ein systematischer Review zu Effekten auf psychische Gesundheitsparameter von Kindern und Jugendlichen. In: Gesundheitswesen

Raedler, Johannes; Magg, Thomas; Rohlfs, Meino; Klein, Christoph; Vallée, Tanja; Hauck, Fabian and Albert, Michael H. (2021): Lineage-Specific Chimerism and Outcome After Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency. In: Journal of clinical immunology, Vol. 41, No. 7: pp. 1536-1548 [PDF, 2MB]

Bosa, Luca; Batura, Vritika; Colavito, Davide; Fiedler, Karoline; Gaio, Paola; Guo, Conghui; Li, Qi; Marzollo, Antonio; Mescoli, Claudia; Nambu, Ryusuke; Pan, Jie; Perilongo, Giorgio; Warner, Neil; Zhang, Shiqi; Kotlarz, Daniel; Klein, Christoph; Snapper, Scott B.; Walters, Thomas D.; Leon, Alberta; Griffiths, Anne M.; Cananzi, Mara and Muise, Aleixo M. (2021): Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease. In: Scientific Reports, Vol. 11, No. 1, 5945 [PDF, 9MB]

Choukair, Daniela; Hauck, Fabian; Bettendorf, Markus; Krude, Heiko; Klein, Christoph; Baeumer, Tobias; Berner, Reinhard; Lee-Kirsch, Min Ae; Grasemann, Corinna; Burgard, Peter and 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, Vol. 16, No. 1, 474

Choukair, Daniela; Lee-Kirsch, Min Ae; Berner, Reinhard; Grasemann, Corinna; Hiort, Olaf; Hauck, Fabian; Klein, Christoph; Druschke, Diana; Hoffmann, Georg F. and Burgard, Peter (2021): Der klinische Versorgungspfad zur multiprofessionellen Versorgung seltener Erkrankungen in der Pädiatrie – Ergebnisse aus dem Projekt TRANSLATE-NAMSE. In: Monatsschrift Kinderheilkunde, Vol. 170, No. 1: pp. 52-60

Donadieu, Jean; Frenz, Stephanie; Merz, Lauren; Sicre De Fontbrune, Flore; Rotulo, Gioacchino Andrea; Beaupain, Blandine; Biosse-Duplan, Martin; Audrain, Marie; Croisille, Laure; Ancliff, Phil; Klein, Christoph and Bellanne-Chantelot, Christine (2021): Chronic neutropenia: how best to assess severity and approach management? In: Expert Review of Hematology, Vol. 14, No. 10: pp. 945-960

Duztas, Demet Teker; Al-Shadfan, Lina; Ozturk, Hakan; Yazan, Hakan; Cakir, Erkan; Unver, Nurcan; Ekinci, Ozgur; Dalgic, Buket; Rohlfs, Meino; Jeske, Tim; Klein, Christoph; Kotlarz, Daniel and Gurkan, Odul Egritas (2021): New Findings of Immunodysregulation, Polyendocrinopathy, and Enteropathy X-linked Syndrome (IPEX);Granulomas in Lung and Duodenum. In: Pediatric and Developmental Pathology, Vol. 24, No. 3, 1093526621998868: pp. 252-257

Frede, Natalie; Rojas-Restrepo, Jessica; Caballero Garcia de Oteyza, Andres; Buchta, Mary; Huebscher, Katrin; Gamez-Diaz, Laura; Proietti, Michele; Saghafi, Shiva; Chavoshzadeh, Zahra; Soler-Palacin, Pere; Galal, Nermeen; Adeli, Mehdi; Aldave-Becerra, Juan Carlos; Al-Ddafari, Moudjahed Saleh; Ardenyz, Omur; Atkinson, T. Prescott; Kut, Fulya Bektas; Celmeli, Fatih; Rees, Helen; Kilic, Sara S.; Kirovski, Ilija; Klein, Christoph; Kobbe, Robin; Korganow, Anne-Sophie; Lilic, Desa; Lunt, Peter; Makwana, Niten; Metin, Ayse; Ozgur, Tuba Turul; Karakas, Ayse Akman; Seneviratne, Suranjith; Sherkat, Roya; Sousa, Ana Berta; Unal, Ekrem; Patiroglu, Turkan; Wahn, Volker; Bernuth, Horst von; Whiteford, Margo; Doffinger, Rainer; Jouhadi, Zineb and Grimbacher, Bodo (2021): Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis. In: Journal of Clinical Immunology, Vol. 41, No. 8: pp. 1804-1838

Frey, Laura; Zietara, Natalia; Lyszkiewicz, Marcin; Marquardt, Benjamin; Mizoguchi, Yoko; Linder, Monika I.; Liu, Yanshan; Giesert, Florian; Wurst, Wolfgang; Dahlhoff, Maik; Schneider, Marlon R.; Wolf, Eckhard; Somech, Raz and Klein, Christoph (2021): Mammalian VPS45 orchestrates trafficking through the endosomal system. In: Blood, Vol. 137, No. 14: pp. 1932-1944

Hagelkruys, Astrid; Wirnsberger, Gerald; Stadlmann, Johannes; Wohner, Miriam; Horrer, Marion; Vilagos, Bojan; Jonsson, Gustav; Kogler, Melanie; Tortola, Luigi; Novatchkova, Maria; Bonelt, Peter; Hoffmann, David; Koglgruber, Rubina; Steffen, Ulrike; Schett, Georg; Busslinger, Meinrad; Bergthaler, Andreas; Klein, Christoph and Penninger, Josef M. (2021): A crucial role for Jagunal homolog 1 in humoral immunity and antibody glycosylation in mice and humans. In: Journal of Experimental Medicine, Vol. 218, No. 1, e20200559

Hangul, Melih; Tuzuner, Ahmet B.; Somekh, Ido; Klein, Christoph; Patiroglu, Turkan; Unal, Ekrem and Kose, Mehmet (2021): Type 1 Plasminogen Deficiency With Pulmonary Involvement: Novel Treatment and Novel Mutation. In: Journal of Pediatric Hematology Oncology, Vol. 43, No. 4, E558-E560

Herbst, Friederike; Lang, Tonio J. L.; Eckert, Elias S. P.; Wunsche, Peer; Wurm, Alexander A.; Kindinger, Tim; Laaber, Karin; Hemmati, Shayda; Hotz-Wagenblatt, Agnes; Zavidij, Oksana; Paruzynski, Anna; Lu, Junyan; Kalle, Christof von; Zenz, Thorsten; Klein, Christoph; Schmidt, Manfred; Ball, Claudia R. and Glimm, Hanno (2021): The balance between the intronic miR-342 and its host gene Evl determines hematopoietic cell fate decision. In: Leukemia, Vol. 35, No. 10: pp. 2948-2963

Hoffmann, Dirk; Sens, Johanna; Brennig, Sebastian; Brand, Daniel; Philipp, Friederike; Vollmer Barbosa, Philippe; Kuehle, Johannes; Steinemann, Doris; Lenz, Daniela; Buchegger, Theresa; Morgan, Michael; Falk, Christine S.; Klein, Christoph; Lachmann, Nico and Schambach, Axel (2021): Genetic Correction of IL-10RB Deficiency Reconstitutes Anti-Inflammatory Regulation in iPSC-Derived Macrophages. In: Journal of Personalized Medicine, Vol. 11, No. 3, 221

Kim-Hellmuth, Sarah; Hermann, Matthias; Eilenberger, Julia; Ley-Zaporozhan, Julia; Fischer, Marcus; Hauck, Fabian; Klein, Christoph; Haas, Nikolaus; Kappler, Matthias; Hübner, Johannes; Jakob, Andre and 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, Vol. 10, No. 4: pp. 543-546

Kisaarslan, Aysenur Pac; Witzel, Maximilam; Unal, Ekrem; Rohlfs, Meino; Akyildiz, Basaknur; Dogan, Muhammet E.; Poyrazoglu, Hakan; Klein, Christoph and Patiroglu, Turkan (2021): Refractory and Fatal Presentation of Severe Autoimmune Hemolytic Anemia in a Child With the DNASE1L3 Mutation Complicated With an Additional DOCK8 Variant. In: Journal of Pediatric Hematology Oncology, Vol. 43, No. 3, E452-E456

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. and Robinson, Peter N. (2021): The Human Phenotype Ontology in 2021. In: Nucleic Acids Research, Vol. 49, No. 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. and Hauck, Fabian (2021): Abatacept for treatment-refractory pediatric CTLA4-haploinsufficiency. In: Clinical Immunology, Vol. 229, 108779

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 and Staufner, Christian (2021): NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency. In: Journal of Clinical Immunology, Vol. 41, No. 8: pp. 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 and Hauck, Fabian (2021): Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency. In: Science Immunology, Vol. 6, No. 60, eabf9564

Maroufi, Seyed F.; Shaka, Zoha; Mojtabavi, Helia; Sadeghalvad, Mona; Rayzan, Elham; Sedighi, Iraj; Shahkarami, Sepideh; Najafi, Mehri; Rohlfs, Meino; Klein, Christoph and Rezaei, Nima (2021): Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature. In: Endocrine Metabolic & Immune Disorders-Drug Targets, Vol. 21, No. 9: pp. 1660-1668

Ouahed, Jodie; Kelsen, Judith R.; Spessott, Waldo A.; Kooshesh, Kameron; Sanmillan, Maria L.; Dawany, Noor; Sullivan, Kathleen E.; Hamilton, Kathryn E.; Slowik, Voytek; Nejentsev, Sergey; Neves, Joao Farela; Flores, Helena; Chung, Wendy K.; Wilson, Ashley; Anyane-Yeboa, Kwame; Wou, Karen; Jain, Preti; Field, Michael; Tollefson, Sophia; Dent, Maiah H.; Li, Dalin; Naito, Takeo; McGovern, Dermot P. B.; Kwong, Andrew C.; Taliaferro, Faith; Ordovas-Montanes, Jose; Horwitz, Bruce H.; Kotlarz, Daniel; Klein, Christoph; Evans, Jonathan; Dorsey, Jill; Warner, Neil; Elkadri, Abdul; Muise, Aleixo M.; Goldsmith, Jeffrey; Thompson, Benjamin; Engelhardt, Karin R.; Cant, Andrew J.; Hambleton, Sophie; Barclay, Andrew; Toth-Petroczy, Agnes; Vuzman, Dana; Carmichael, Nikkola; Bodea, Corneliu; Cassa, Christopher A.; Devoto, Marcella; Maas, Richard L.; Behrens, Edward M.; Giraudo, Claudio G. and Snapper, Scott B. (2021): Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation. In: Journal of Crohns & Colitis, Vol. 15, No. 11: pp. 1908-1919

Pangratz-Fuehrer, Susanne; Genzel-Boroviczeny, Orsolya; Bodensohn, Wolfgang Emanuel; Eisenburger, Robin; Scharpenack, Janne; Geyer, Philipp E.; Müller-Reif, Johannes B.; Hagen, Nadja van; Müller, Alina M.; Jensen, Majken Karoline; Klein, Christoph; Mann, Matthias and Nussbaum, Claudia (2021): Cohort profile: the MUNICH Preterm and Term Clinical study (MUNICH-PreTCl), a neonatal birth cohort with focus on prenatal and postnatal determinants of infant and childhood morbidity. In: BMJ Open, Vol. 11, No. 6, e050652

Raedler, Johannes; Magg, Thomas; Rohlfs, Meino; Klein, Christoph; Vallée, Tanja; Hauck, Fabian and Albert, Michael H. (2021): Lineage-Specific Chimerism and Outcome After Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency. In: Journal of Clinical Immunology, Vol. 41, No. 7: pp. 1536-1548

Strigli, Anne; Gopalakrishnan, Shreya; Zeissig, Yvonne; Basic, Marijana; Wang, Jun; Schwerd, Tobias; Doms, Shauni; Peuker, Kenneth; Hartwig, Jelka; Harder, Jürgen; Hoenscheid, Pia; Arnold, Philipp; Kurth, Thomas; Rost, Fabian; Petersen, Britt-Sabina; Forster, Michael; Franke, Andre; Kelsen, Judith R.; Rohlfs, Meino; Klein, Christoph; Muise, Aleixo M.; Warner, Neil; Nambu, Ryusuke; Mayerle, Julia; Toeroek, Helga-Paula; Linkermann, Andreas; Muders, Michael H.; Baretton, Gustavo B.; Hampe, Jochen; Aust, Daniela E.; Baines, John F.; Bleich, Andre and Zeissig, Sebastian (2021): Deficiency in X-linked inhibitor of apoptosis protein promotes susceptibility to microbial triggers of intestinal inflammation. In: Science Immunology, Vol. 6, No. 65, eabf7473

Tangye, Stuart G.; Al-Herz, Waleed; Bousfiha, Aziz; Cunningham-Rundles, Charlotte; Franco, Jose Luis; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Oksenhendler, Eric; Picard, Capucine; Puel, Anne; Puck, Jennifer; Seppaenen, Mikko R. J.; Somech, Raz; Su, Helen C.; Sullivan, Kathleen E.; Torgerson, Troy R. and Meyts, Isabelle (2021): The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee. In: Journal of Clinical Immunology, Vol. 41, No. 3: pp. 666-679

Uhlig, Holm H.; Charbit-Henrion, Fabienne; Kotlarz, Daniel; Shouval, Dror S.; Schwerd, Tobias; Strisciuglio, Caterina; Ridder, Lissy de; Limbergen, Johan van; Macchi, Marina; Snapper, Scott B.; Ruemmele, Frank M.; Wilson, David C.; Travis, Simon P. L.; Griffiths, Anne M.; Turner, Dan; Klein, Christoph; Muise, Aleixo M. and Russell, Richard K. (2021): Clinical Genomics for the Diagnosis of Monogenic Forms of Inflammatory Bowel Disease: A Position Paper From the Paediatric IBD Porto Group of European Society of Paediatric Gastroenterology, Hepatology and Nutrition. In: Journal of Pediatric Gastroenterology and Nutrition, Vol. 72, No. 3: pp. 456-473

Wang, Lin; Aschenbrenner, Dominik; Zeng, Zhiyang; Cao, Xiya; Mayr, Daniel; Mehta, Meera; Capitani, Melania; Warner, Neil; Pan, Jie; Wang, Liren; Li, Qi; Zuo, Tao; Cohen-Kedar, Sarit; Lu, Jiawei; Ardy, Rico Chandra; Mulder, Daniel J.; Dissanayake, Dilan; Peng, Kaiyue; Huang, Zhiheng; Li, Xiaoqin; Wang, Yuesheng; Wang, Xiaobing; Li, Shuchao; Bullers, Samuel; Gammage, Anis N.; Warnatz, Klaus; Schiefer, Ana-Iris; Krivan, Gergely; Goda, Vera; Kahr, Walter H. A.; Lemaire, Mathieu; Lu, Chien-Yi; Siddiqui, Iram; Surette, Michael G.; Kotlarz, Daniel; Engelhardt, Karin R.; Griffin, Helen R.; Rottapel, Robert; Decaluwe, Helene; Laxer, Ronald M.; Proietti, Michele; Hambleton, Sophie; Elcombe, Suzanne; Guo, Cong-Hui; Grimbacher, Bodo; Dotan, Iris; Ng, Siew C.; Freeman, Spencer A.; Snapper, Scott B.; Klein, Christoph; Boztug, Kaan; Huang, Ying; Li, Dali; Uhlig, Holm H. and Muise, Aleixo M. (2021): Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice. In: Nature Genetics, Vol. 53, No. 4: pp. 500-510

Willier, Semjon; Rothamel, Paula; Hastreiter, Maximilian; Wilhelm, Jonas; Stenger, Dana; Blaeschke, Franziska; Rohlfs, Meino; Kaeuferle, Theresa; Schmid, Irene; Albert, Michael H.; Binder, Vera; Subklewe, Marion; Klein, Christoph and Feuchtinger, Tobias (2021): CLEC12A and CD33 coexpression as a preferential target for pediatric AML combinatorial immunotherapy. In: Blood, Vol. 137, No. 8: pp. 1037-1049

Ye, Ziqing; Hu, Wenhui; Wu, Bingbing; Zhang, Yueping; Lei, Caixia; Williams, Isabelle; Shouval, Dror S.; Kanegane, Hirokazu; Kim, Kyung Mo; de Ridder, Lissy; Shah, Neil; Ling, Galina; Yerushalmi, Baruch; Kotlarz, Daniel; Snapper, Scott; Horn, Ruth; Klein, Christoph; Muise, Aleixo M.; Huang, Ying and Uhlig, Holm H. (2021): Predictive Prenatal Diagnosis for Infantile-onset Inflammatory Bowel Disease Because of Interleukin-10 Signalling Defects. In: Journal of Pediatric Gastroenterology and Nutrition, Vol. 72, No. 2: pp. 276-281

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. and Patiroglu, Turkan (2021): Common Variable Immunodeficiency, Autoimmune Hemolytic Anemia, and Pancytopenia Associated With a Defect in IKAROS. In: Journal of Pediatric Hematology Oncology, Vol. 43, No. 3, E351-E357

Klein, Christoph (30. April 2020): "Ich habe was, was du nicht weißt". In: bild der wissenschaft: p. 36

Grützner, Eva M.; Neizert, Ashley; Stirner, Renate; Conca, Raffaele; Andrä, Immanuel; Wolff, Lisa; Schiemann, Matthias; Holdt, Lesca M.; Klein, Christoph; Bogner, Johannes R. and Draenert, Rika (2020): High frequencies of PMN-MDSCs are associated with low suppressive capacity in advanced stages of HIV-1 infection. In: Translational Medicine Communications 5:1 [PDF, 1MB]

Tangye, Stuart G.; Al-Herz, Waleed; Bousfiha, Aziz; Chatila, Talal; Cunningham-Rundles, Charlotte; Etzioni, Amos; Franco, Jose Luis; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Ochs, Hans D.; Oksenhendler, Eric; Picard, Capucine; Puck, Jennifer; Torgerson, Troy R.; Casanova, Jean-Laurent and Sullivan, Kathleen E. (2020): Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. In: Journal of Clinical Immunology, Vol. 40, No. 1: pp. 24-64

Bousfiha, Aziz; Jeddane, Leila; Picard, Capucine; Al-Herz, Waleed; Ailal, Fatima; Chatila, Talal; Cunningham-Rundles, Charlotte; Etzioni, Amos; Franco, Jose Luis; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Ochs, Hans D.; Oksenhendler, Eric; Puck, Jennifer; Torgerson, Troy R.; Casanova, Jean-Laurent; Sullivan, Kathleen E. and Tangye, Stuart G. (2020): Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. In: Journal of Clinical Immunology, Vol. 40, No. 1: pp. 66-81

Ziv, Alma; Werner, Lael; Konnikova, Liza; Awad, Aya; Jeske, Tim; Hastreiter, Maximilian; Mitsialis, Vanessa; Stauber, Tali; Wall, Sarah; Kotlarz, Daniel; Klein, Christoph; Snapper, Scott B.; Tzfati, Yehuda; Weiss, Batia; Somech, Raz and Shouval, Dror S. (2020): AnRTEL1Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency. In: Journal of Clinical Immunology, Vol. 40, No. 7: pp. 1010-1019

Simon, Amos J.; Golan, Adi Cohen; Lev, Atar; Stauber, Tali; Barel, Ortal; Somekh, Ido; Klein, Christoph; AbuZaitun, Omar; Eyal, Eran; Kol, Nitzan; Unal, Ekrem; Amariglio, Ninette; Rechavi, Gideon and Somech, Raz (2020): Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community. In: Clinical Immunology, Vol. 214, 108376

Lorenzini, Tiziana; Fliegauf, Manfred; Klammer, Nils; Frede, Natalie; Proietti, Michele; Bulashevska, Alla; Camacho-Ordonez, Nadezhda; Varjosalo, Markku; Kinnunen, Matias; Vries, Esther de; Meer, Jos W. M. van der; Ameratunga, Rohan; Roifman, Chaim M.; Schejter, Yael D.; Kobbe, Robin; Hautala, Timo; Atschekzei, Faranaz; Schmidt, Reinhold E.; Schroeder, Claudia; Stepensky, Polina; Shadur, Bella; Pedroza, Luis A.; Flier, Michiel van der; Martinez-Gallo, Monica; Ignacio Gonzalez-Granado, Luis; Allende, Luis M.; Shcherbina, Anna; Kuzmenko, Natalia; Zakharova, Victoria; Neves, Joao Farela; Svec, Peter; Fischer, Ute; Ip, Winnie; Bartsch, Oliver; Baris, Safa; Klein, Christoph; Geha, Raif; Chou, Janet; Alosaimi, Mohammed; Weintraub, Lauren; Boztug, Kaan; Hirschmugl, Tatjana; Dos Santos Vilela, Maria Marluce; Holzinger, Dirk; Seidl, Maximilian; Lougaris, Vassilios; Plebani, Alessandro; Alsina, Laia; Piquer-Gibert, Monica; Deya-Martinez, Angela; Slade, Charlotte A.; Aghamohammadi, Asghar; Abolhassani, Hassan; Hammarstrom, Lennart; Kuismin, Outi; Helminen, Merja; Allen, Hana Lango; Thaventhiran, James E.; Freeman, Alexandra F.; Cook, Matthew; Bakhtiar, Shahrzad; Christiansen, Mette; Cunningham-Rundles, Charlotte; Patel, Niraj C.; Rae, William; Niehues, Tim; Brauer, Nina; Syrjanen, Jaana; Seppanen, Mikko R. J.; Burns, Siobhan O.; Tuijnenburg, Paul; Kuijpers, Taco W.; Warnatz, Klaus and Grimbacher, Bodo (2020): Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations. In: Journal of Allergy and Clinical Immunology, Vol. 146, No. 4: pp. 901-911

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. and 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, Vol. 8, No. 9: pp. 3102-3111

Blaeschke, Franziska; Willier, Semjon; Stenger, Dana; Lepenies, Mareike; Horstmann, Martin A.; Escherich, Gabriele; Zimmermann, Martin; Ringeling, Francisca Rojas; Canzar, Stefan; Kaeuferle, Theresa; Rohlfs, Meino; Binder, Vera; Klein, Christoph and Feuchtinger, Tobias (2020): Leukemia-induced dysfunctional TIM-3(+)CD4(+) bone marrow T cells increase risk of relapse in pediatric B-precursor ALL patients. In: Leukemia, Vol. 34, No. 10: pp. 2607-2620

Hoffmann, Dirk; Kuehle, Johannes; Lenz, Daniela; Philipp, Friederike; Zychlinski, Daniela; Lachmann, Nico; Moritz, Thomas; Steinemann, Doris; Morgan, Michael; Skokowa, Julia; Klein, Christoph and Schambach, Axel (2020): Lentiviral gene therapy and vitamin B3 treatment enable granulocytic differentiation of G6PC3-deficient-induced pluripotent stem cells. In: Gene Therapy, Vol. 27, No. 6: pp. 297-306

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. and Lenz, Dominic (2020): Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. In: Genetics in Medicine, Vol. 22, No. 3: pp. 610-621

Lyszkiewicz, Marcin; Zietara, Natalia; Frey, Laura; Pannicke, Ulrich; Stern, Marcel; Liu, Yanshan; Fan, Yanxin; Puchalka, Jacek; Hollizeck, Sebastian; Somekh, Ido; Rohlfs, Meino; Yilmaz, Tugba; Unal, Ekrem; Karakukcu, Musa; Patiroglu, Türkan; Kellerer, Christina; Karasu, Ebru; Sykora, Karl-Walter; Lev, Atar; Simon, Amos; Somech, Raz; Roesler, Joachim; Hoenig, Manfred; Keppler, Oliver T.; Schwarz, Klaus and Klein, Christoph (2020): Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells. In: Nature Communications, Vol. 11, No. 1, 1031 [PDF, 3MB]

Dhingani, Neel; Guo, Conghui; Pan, Jie; Li, Qi; Warner, Neil; Jardine, Sasha; Leung, Gabriella; Kotlarz, Daniel; Gonzaga-Jauregui, Claudia; Klein, Christoph; Snapper, Scott B.; Navas-Lopez, Victor Manuel and Muise, Aleixo M. (2020): The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease. In: Scientific Reports, Vol. 10, No. 1, 18648 [PDF, 6MB]

Jardine, Sasha; Anderson, Sierra; Babcock, Stephen; Leung, Gabriella; Pan, Jie; Dhingani, Neel; Warner, Neil; Guo, Conghui; Siddiqui, Iram; Kotlarz, Daniel; Dowling, James J.; Melnyk, Roman A.; Snapper, Scott B.; Klein, Christoph; Thiagarajah, Jay R. and Muise, Aleixo M. (2020): Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease Caused by TTC7A Deficiency. In: Gastroenterology, Vol. 158, No. 4: pp. 1000-1015

Crowley, Eileen; Warner, Neil; Pan, Jie; Khalouei, Sam; Elkadri, Abdul; Fiedler, Karoline; Foong, Justin; Turinsky, Andrei L.; Bronte-Tinkew, Dana; Zhang, Shiqi; Hu, Jamie; Tian, David; Li, Dalin; Horowitz, Julie; Siddiqui, Iram; Upton, Julia; Roifman, Chaim M.; Church, Peter C.; Wall, Donna A.; Ramani, Arun K.; Kotlarz, Daniel; Klein, Christoph; Uhlig, Holm; Snapper, Scott B.; Gonzaga-Jauregui, Claudia; Paterson, Andrew D.; McGovern, Dermot P. B.; Brudno, Michael; Walters, Thomas D.; Griffiths, Anne M. and Muise, Aleixo M. (2020): Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center. In: Gastroenterology, Vol. 158, No. 8: pp. 2208-2220

Rahmani, Farzaneh; Rayzan, Elham; Rahmani, Mohammad Reza; Shahkarami, Sepideh; Zoghi, Samaneh; Rezaei, Arezoo; Aryan, Zahra; Najaf, Mehri; Rohlfs, Meino; Jeske, Tim; Aflatoonian, Majid; Chavoshzadeh, Zahra; Farahnnand, Fatemeh; Motamed, Farzaneh; Rohani, Pejman; Alinnadadi, Hossein; Mandaviani, Alireza; Mansouri, Mahboubeh; Tavakol, Marzieh; Vanderberg, Mirjam; Kotlarz, Daniel; Klein, Christoph and Rezaei, Nima (2020): Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR). In: Immunological Investigations, Vol. 50, No. 4: pp. 445-459

Khoshnevisan, Razieh; Anderson, Michael; Babcock, Stephen; Anderson, Sierra; Illig, David; Marquardt, Benjamin; Sherkat, Roya; Schroeder, Katrin; Moll, Franziska; Hollizeck, Sebastian; Rohlfs, Meino; Walz, Christoph; Adibi, Peyman; Rezaei, Abbas; Andalib, Alireza; Koletzko, Sibylle; Muise, Aleixo M.; Snapper, Scott B.; Klein, Christoph; Thiagarajah, Jay R. and Kotlarz, Daniel (2020): NOX1 Regulates Collective and Planktonic Cell Migration: Insights From Patients With Pediatric-Onset IBD and NOX1 Deficiency. In: Inflammatory Bowel Diseases, Vol. 26, No. 8: pp. 1166-1176

Ashrafi, Farzaneh; Klein, Christoph; Poorpooneh, Mohaddese; Sherkat, Roya and Khoshnevisan, Razieh (2020): A case report of sinusoidal diffuse large B-cell lymphoma in a STK4 deficient patient. In: Medicine, Vol. 99, No. 9, e18601

Cansever, Murat; Zietara, Natalia; Chiang, Samuel C. C.; Ozcan, Alper; Yilmaz, Ebru; Karakukcu, Musa; Rohlfs, Meino; Somekh, Ido; Canoz, Ozlem; Abdulrezzak, Ummuhan; Bryceson, Yenan; Klein, Christoph; Unal, Ekrem and Patiroglu, Turkan (2020): A Rare Case of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) Presenting With Hemophagocytosis Complicated With Hodgkin Lymphoma. In: Journal of Pediatric Hematology Oncology, Vol. 42, No. 2: pp. 156-159

Li, Yue; Klein, Christoph and Kotlarz, Daniel (2020): Dysregulation of Cell Death in Human Chronic Inflammation. In: Cold Spring Harbor Perspectives in Biology, Vol. 12, No. 7, a037036

Roick, Julia; Berner, Reinhard; Bernig, Toralf; Erdlenbruch, Bernhard; Escherich, Gabriele; Faber, Jörg; Klein, Christoph; Bochennek, Konrad; Kratz, Christian; Kuehr, Joachim; Laengler, Alfred; Lode, Holger N.; Metzler, Markus; Müller, Hermann; Reinhardt, Dirk; Sauerbrey, Axel; Schepper, Florian; Scheurlen, Wolfram; Schneider, Dominik; Schwabe, Georg Christof and Richter, Matthias (2020): Social inequalities in the participation and activity of children and adolescents with leukemia, brain tumors, and sarcomas (SUPATEEN): a protocol for a multicenter longitudinal prospective observational study. In: BMC Pediatrics, Vol. 20, No. 1, 48

Hager, Paul; Mewes, Hans-Werner; Rohlfs, Meino; Klein, Christoph and Jeske, Tim (2020): SmartPhase: Accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases.
In: PLOS Computational Biology 16(2), e1007613 [PDF, 869kB]

Schoenberg, Markus Bo; Bucher, Julian Nikolaus; Koch, Donnuik; Börner, Nikolaus; Hesse, Sebastian; De Toni, Enrico Narciso; Seidensticker, Max; Angele, Martin Kurt; Klein, Christoph; Bazhin, Alexandr V.; Werner, Jens and Guba, Markus Otto (2020): A novel machine learning algorithm to predict disease free survival after resection of hepatocellular carcinoma. In: Annals of Translational Medicine, Vol. 8, No. 7, 434

Scheible, Raphael; Kadioglu, Dennis; Ehl, Stephan; Blum, Marco; Boeker, Martin; Folz, Michael; Grimbacher, Bodo; Gobel, Jens; Klein, Christoph; Nieters, Alexandra; Rusch, Stephan; Kindle, Gerhard and Storf, Holger (2020): Enabling External Inquiries to an Existing Patient Registry by Using the Open Source Registry System for Rare Diseases: Demonstration of the System Using the European Society for Immunodeficiencies Registry. In: Jmir Medical Informatics, Vol. 8, No. 10, e17420

Ouahed, Jodie; Spencer, Elizabeth; Kotlarz, Daniel; Shouval, Dror S.; Kowalik, Matthew; Peng, Kaiyue; Field, Michael; Grushkin-Lerner, Leslie; Pai, Sung-Yun; Bousvaros, Athos; Cho, Judy; Argmann, Carmen; Schadt, Eric; Mcgovern, Dermot P. B.; Mokry, Michal; Nieuwenhuis, Edward; Clevers, Hans; Powrie, Fiona; Uhlig, Holm; Klein, Christoph; Muise, Aleixo; Dubinsky, Marla and Snapper, Scott B. (2020): Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies. In: Inflammatory Bowel Diseases, Vol. 26, No. 6: pp. 820-842

Momtazmanesh, Sara; Rayzan, Elham; Shahkarami, Sepideh; Rohlfs, Meino; Klein, Christoph and Rezaei, Nima (2020): A novelVPS13Bmutation in Cohen syndrome: a case report and review of literature. In: BMC Medical Genetics, Vol. 21, No. 1, 140

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 and Grimbacher, Bodo (19. July 2019): The German National Registry of Primary Immunodeficiencies (2012-2017). In: Frontiers in Immunology, Vol. 10, 1272: pp. 1-25 [PDF, 2MB]

Lyszkiewicz, Marcin; Kotlarz, Daniel; Zietara, Natalia; Brandes, Gudrun; Diestelhorst, Jana; Glage, Silke; Hobeika, Elias; Reth, Michael; Huber, Lukas A.; Krüger, Andreas and Klein, Christoph (18. March 2019): LAMTOR2 (p14) Controls B Cell Differentiation by Orchestrating Endosomal BCR Trafficking. In: Frontiers in Immunology, Vol. 10, 497 [PDF, 7MB]

Tanita, Kay; Hoshino, Akihiro; Imadome, Ken-Ichi; Kamiya, Takahiro; Inoue, Kento; Okano, Tsubasa; Yeh, Tzu-wen; Yanagimachi, Masakatsu; Shiraishi, Akira; Ishimura, Masataka; Schober, Tilmann; Rohlfs, Meino; Takagi, Masatoshi; Imai, Kohsuke; Takada, Hidetoshi; Ohga, Shouichi; Klein, Christoph; Morio, Tomohiro and Kanegane, Hirokazu (4. February 2019): Epstein-Barr Virus-Associated γδ T-Cell Lymphoproliferative Disorder Associated With Hypomorphic IL2RG Mutation. In: Frontiers in Pediatrics, Vol. 7, 15: pp. 1-6 [PDF, 1MB]

Al-Herz, Waleed; Chou, Janet; Delmonte, Ottavia Maria; Massaad, Michel J.; Bainter, Wayne; Castagnoli, Riccardo; Klein, Christoph; Bryceson, Yenan T.; Geha, Raif S. and Notarangelo, Luigi D. (15. January 2019): Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population. In: Frontiers in Immunology, Vol. 9, 3146: pp. 1-11 [PDF, 1MB]

Jeske, Tim; Huypens, Peter; Stirm, Laura; Hoeckele, Selina; Wurmser, Christine M.; Boehm, Anja; Weigert, Cora; Staiger, Harald; Klein, Christoph; Beckers, Johannes and Hastreiter, Maximilian (2019): DEUS: an R package for accurate small RNA profiling based on differential expression of unique sequences. In: Bioinformatics, Vol. 35, No. 22: pp. 4834-4836

Merdler-Rabinowicz, Rona; Grinberg, Anna; Jacobson, Jeffrey M.; Somekh, Ido; Klein, Christoph; Lev, Atar; Ihsan, Salama; Habib, Adib; Somech, Raz and Simon, Amos J. (2019): Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease). In: Pediatric Research, Vol. 86, No. 5: pp. 603-607

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 and Kotlarz, Daniel (2019): CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease. In: Inflammatory Bowel Diseases, Vol. 25, No. 11: pp. 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 and Boztug, Kaan (2019): CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis. In: Blood, Vol. 134, No. 18: pp. 1510-1516

Khoshnevisan, Razieh; Vakili, Fariba; Klein, Christoph; Kotlarz, Daniel; Nasirian, Maryam; Sherkat, Roya and Rezaei, Abbas (2019): An analysis and survey of interleukin-10 receptor mutation in inflammatory bowel disease (IBD) in the first Iranian IBD cohort. In: Journal of Laboratory Medicine, Vol. 43, No. 4: pp. 185-189

Eken, Ahmet; Cansever, Murat; Somekh, Ido; Mizoguchi, Yoko; Zietara, Natalia; Okus, Fatma Zehra; Erdem, Serife; Canatan, Halit; Akyol, Sefika; Ozcan, Alper; Karakukcu, Musa; Hollizeck, Sebastian; Rohlfs, Meino; Unal, Ekrem; Klein, Christoph and Patiroglu, Turkan (2019): Genetic Deficiency and Biochemical Inhibition of ITK Affect Human Th17, Treg, and Innate Lymphoid Cells. In: Journal of Clinical Immunology, Vol. 39, No. 4: pp. 391-400

Grabowski, Piotr; Hesse, Sebastian; Hollizeck, Sebastian; Rohlfs, Meino; Behrends, Uta; Sherkat, Roya; Tamary, Hannah; Unal, Ekrem; Somech, Raz; Patiroglu, Turkan; Canzar, Stefan; Ten Bosch, Jutte van der Werff; Klein, Christoph and Rappsilber, Juri (2019): Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition. In: Molecular & Cellular Proteomics, Vol. 18, No. 4: pp. 760-772

Illig, David; Navratil, Marta; Kelecic, Jadranka; Conca, Raffaele; Hojsak, Iva; Jadresin, Oleg; Coric, Marijana; Vukovic, Jurica; Rohlfs, Meino; Hollizeck, Sebastian; Bohne, Jens; Klein, Christoph and Kotlarz, Daniel (2019): Alternative Splicing Rescues Loss of Common Gamma Chain Function and Results in IL-21R-like Deficiency. In: Journal of Clinical Immunology, Vol. 39, No. 2: pp. 207-215

Li, Yue; Fuehrer, Marita; Bahrami, Ehsan; Socha, Piotr; Klaudel-Dreszler, Maja; Bouzidi, Amira; Liu, Yanshan; Lehle, Anna S.; Magg, Thomas; Hollizeck, Sebastian; Rohlfs, Meino; Conca, Raffaele; Field, Michael; Warner, Neil; Mordechai, Slae; Shteyer, Eyal; Turner, Dan; Boukari, Rachida; Belbouab, Reda; Walz, Christoph; Gaidt, Moritz M.; Hornung, Veit; Baumann, Bernd; Pannicke, Ulrich; Al Idrissi, Eman; Alghamdi, Hamza Ali; Sepulveda, Fernando E.; Gil, Marine; Basile, Genevieve de Saint; Honig, Manfred; Koletzko, Sibylle; Muise, Aleixo M.; Snapper, Scott B.; Schwarz, Klaus; Klein, Christoph and Kotlarz, Daniel (2019): Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 116, No. 3: pp. 970-975

Blume, Jonas; Zietara, Natalia; Witzlau, Katrin; Liu, Yanshan; Sanchez, Oskar Ortiz; Puchalka, Jacek; Winter, Samantha J.; Kunze-Schumacher, Heike; Saran, Namita; Dueber, Sandra; Roy, Bishnudeo; Weiss, Siegfried; Klein, Christoph; Wurst, Wolfgang; Lyszkiewicz, Marcin and Krüger, Andreas (2019): miR-191 modulates B-cell development and targets transcription factors E2A, Foxp1, and Egr1. In: European Journal of Immunology, Vol. 49, No. 1: pp. 121-132

Hospach, Toni; Glowatzki, Fabian; Blankenburg, Friederike; Conzelmann, Dennis; Stirnkorb, Christian; Müllerschön, Chris Sandra; Driesch, Peter von den; Köhler, Lisa Maria; Rohlfs, Meino; Klein, Christoph and Hauck, Fabian (2019): Scoping review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents. In: Pediatric Rheumatology, Vol. 17, 37

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 and 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, Vol. 39, No. 1: pp. 81-89

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. and 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. and 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, Vol. 191: pp. 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 and Klein, Christoph (2018): Human TGF-beta 1 deficiency causes severe inflammatory bowel disease and encephalopathy. In: Nature Genetics, Vol. 50, No. 3: pp. 344-348

Suttorp, Meinolf; Schulze, Philipp; Glauche, Ingmar; Göhring, Gudrun; Neuhoff, Nils von; Metzler, Markus; Sedlacek, Petr; Bont, Eveline S. J. M. de; Balduzzi, Adriana; Lausen, Birgitte; Aleinikova, Olga; Sufliarska, Sabina; Henze, Günter; Strauss, Gabriele; Eggert, Angelika; Kremens, Bernhard; Groll, Andreas H.; Berthold, Frank; Klein, Christoph; Gross-Wieltsch, Ute; Sykora, Karl Walter; Borkhardt, Arndt; Kulozik, Andreas E.; Schrappe, Martin; Nowasz, Christina; Krumbholz, Manuela; Tauer, Josephine T.; Claviez, Alexander; Harbott, Jochen; Kreipe, Hans H.; Schlegelberger, Brigitte and Thiede, Christian (2018): Front-line imatinib treatment in children and adolescents with chronic myeloid leukemia: results from a phase III trial. In: Leukemia, Vol. 32, No. 7: pp. 1657-1669

Sheikhbahaei, Saba; Sherkat, Roya; Camacho-Ordonez, Nadezhda; Khoshnevisan, Razie; Kalantari, Asadollah; Salehi, Mansour; Nazemian, Seyed Saman; Nasr-Esfahani, Mohammad Hossein and Klein, Christoph (2018): Pregnancy, child bearing and prevention of giving birth to the affected children in patients with primary immunodeficiency disease;a case-series. In: BMC Pregnancy and Childbirth 18:299 [PDF, 744kB]

Picard, Capucine; Bobby Gaspar, H.; Al-Herz, Waleed; Bousfiha, Aziz; Casanova, Jean-Laurent; Chatila, Talal; Crow, Yanick J.; Cunningham-Rundles, Charlotte; Etzioni, Amos; Luis Franco, Jose; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Ochs, Hans D.; Oksenhendler, Eric; Puck, Jennifer; Tang, Mimi L. K.; Tangye, Stuart G.; Torgerson, Troy R. and Sullivan, Kathleen E. (2018): International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. In: Journal of Clinical Immunology, Vol. 38, No. 1: pp. 96-128

Bousfiha, Aziz; Jeddane, Leila; Picard, Capucine; Ailal, Fatima; Gaspar, H. Bobby; Al-Herz, Waleed; Chatila, Talal; Crow, Yanick J.; Cunningham-Rundles, Charlotte; Etzioni, Amos; Luis Franco, Jose; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Ochs, Hans D.; Oksenhendler, Eric; Puck, Jennifer; Tang, Mimi L. K.; Tangye, Stuart G.; Torgerson, Troy R.; Casanova, Jean-Laurent and Sullivan, Kathleen E. (2018): The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. In: Journal of Clinical Immunology, Vol. 38, No. 1: pp. 129-143

Somekh, Ido; Marquardt, Benjamin; Liu, Yanshan; Rohlfs, Meino; Hollizeck, Sebastian; Karakukcu, Musa; Unal, Ekrem; Yilmaz, Ebru; Patiroglu, Turkan; Cansever, Murat; Frizinsky, Shirly; Vishnvenska-Dai, Vicktoria; Rechavi, Erez; Stauber, Tali; Simon, Amos J.; Lev, Atar; Klein, Christoph; Kotlarz, Daniel and Somech, Raz (2018): Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma. In: Journal of Clinical Immunology, Vol. 38, No. 6: pp. 699-710

Nekooie-Marnany, Nioosha; Deswarte, Caroline; Ostadi, Vajiheh; Bagherpour, Bahram; Taleby, Elaheh; Ganjalikhani-Hakemi, Mazdak; Le Voyer, Tom; Rahimi, Hamid; Rosain, Jeremie; Pourmoghadas, Zahra; Sheikhbahaei, Saba; Khoshnevisan, Razieh; Petersheim, Daniel; Kotlarz, Daniel; Klein, Christoph; Boisson-Dupuis, Stephanie; Casanova, Jean-Laurent; Bustamante, Jacinta and Sherkat, Roya (2018): Impaired IL-12-and IL-23-Mediated Immunity Due to IL-12R1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease. In: Journal of Clinical Immunology, Vol. 38, No. 7: pp. 787-793

Wuensche, Peer; Eckert, Elias S. P.; Holland-Letz, Tim; Paruzynski, Anna; Hotz-Wagenblatt, Agnes; Fronza, Raffaele; Rath, Tim; Gil-Farina, Irene; Schmidt, Manfred; Kalle, Christof von; Klein, Christoph; Ball, Claudia R.; Herbst, Friederike and Glimm, Hanno (2018): Mapping Active Gene-Regulatory Regions in Human Repopulating Long-Term HSCs. In: Cell Stem Cell, Vol. 23, No. 1: pp. 132-146

Geissler, Sven; Textor, Martin; Stumpp, Sabine; Seitz, Sebastian; Lekaj, Anja; Brunk, Sabrina; Klaassen, Sabine; Schinke, Thorsten; Klein, Christoph; Mundlos, Stefan; Kornak, Uwe and Kuehnisch, Jirko (2018): Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation.
In: PLOS One 13(6), e0198510 [PDF, 5MB]

Magg, Thomas; Schober, Tilmann; Walz, Christoph; Ley-Zaporozhan, Julia; Facchetti, Fabio; Klein, Christoph and Hauck, Fabian (2018): Epstein–Barr Virus+ Smooth Muscle Tumors as Manifestation of Primary Immunodeficiency Disorders. In: Frontiers in Immunology, Vol. 9, 368 [PDF, 567kB]

Klein, Christoph (2018): Kinderheilkunde im Spiegel der Kinderrechtskonvention. In: Gesundheitswesen, Vol. 80, No. 2: pp. 191-196

Witzel, Maximilian; Petersheim, Daniel; Fan, Yanxin; Bahrami, Ehsan; Racek, Tomas; Rohlfs, Meino; Puchalka, Jacek; Mertes, Christian; Gagneur, Julien; Ziegenhain, Christoph; Enard, Wolfgang; Stray-Pedersen, AsbJörg; Arkwright, Peter D.; Abboud, Miguel R.; Pazhakh, Vahid; Lieschke, Graham J.; Krawitz, Peter M.; Dahlhoff, Maik; Schneider, Marlon R.; Wolf, Eckhard; Horny, Hans-Peter; Schmidt, Heinrich; Schäffer, Alejandro A. and Klein, Christoph (2017): Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. In: Nature Genetics, Vol. 49, No. 5: pp. 742-752

Bahrami, Ehsan; Witzel, Maximilian; Racek, Tomas; Puchaka, Jacek; Hollizeck, Sebastian; Greif-Kohistani, Naschla; Kotlarz, Daniel; Horny, Hans-Peter; Feederle, Regina; Schmidt, Heinrich; Sherkat, Roya; Steinemann, Doris; Göhring, Gudrun; Schlegelbeger, Brigitte; Albert, Michael H.; Al-Herz, Waleed and Klein, Christoph (2017): Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations. In: Journal of Allergy and Clinical Immunology, Vol. 140, No. 4: pp. 1112-1119

Klein, Christoph (2017): Kostmann's Disease and HCLS1-Associated Protein X-1 (HAX1). In: Journal of Clinical Immunology, Vol. 37, No. 2: pp. 117-122

Shouval, Dror S.; Konnikova, Liza; Griffith, Alexandra E.; Wall, Sarah M.; Biswas, Amlan; Werner, Lael; Nunberg, Moran; Kammermeier, Jochen; Goettel, Jeremy A.; Anand, Rajsavi; Chen, Hannah; Weiss, Batia; Li, Jian; Loizides, Anthony; Yerushalmi, Baruch; Yanagi, Tadahiro; Beier, Rita; Conklin, Laurie S.; Ebens, Christen L.; Santos, Fernanda G. M. S.; Sherlock, Mary; Goldsmith, Jeffery D.; Kotlarz, Daniel; Glover, Sarah C.; Shah, Neil; Bousvaros, Athos; Uhlig, Holm H.; Muise, Aleixo M.; Klein, Christoph and Snapper, Scott B. (2017): Enhanced T(H)17 Responses in Patients with IL10 Receptor Deficiency and Infantile-onset IBD. In: Inflammatory Bowel Diseases, Vol. 23, No. 11: pp. 1950-1961

Aglaguel, Ayoub; Abdelghaffar, Houria; Ailal, Fatima; Habti, Norddine; Hesse, Sebastian; Kohistani, Naschla; Klein, Christoph and Bousfiha, Ahmed Aziz (2017): Poikiloderma with Neutropenia in Morocco: a Report of Four Cases. In: Journal of Clinical Immunology, Vol. 37, No. 4: pp. 357-362

Aghamohammadi, Asghar; Abolhassani, Hassan; Puchalka, Jacek; Greif-Kohistani, Naschla; Zoghi, Samaneh; Klein, Christoph and Rezaei, Nima (2017): Preference of Genetic Diagnosis of CXCR4 Mutation Compared with Clinical Diagnosis of WHIM Syndrome. In: Journal of Clinical Immunology, Vol. 37, No. 3: pp. 282-286

Kampers, Johanna; Orjuela-Grimm, Manuela; Schober, Tilmann; Schulz, Thomas F.; Stiefel, Martina; Klein, Christoph; Körholz, Dieter; Mauz-Körholz, Christine; Kreipe, Hans; Beier, Rita and Maecker-Kolhoff, Britta (2017): Classical Hodgkin lymphoma-type PTLD after solid organ transplantation in children: a report on 17 patients treated according to subsequent GPOH-HD treatment schedules. In: Leukemia & Lymphoma, Vol. 58, No. 3: pp. 633-638

Kurz, Angela R. M.; Pruenster, Monika; Rohwedder, Ina; Ramadass, Mahalakshmi; Schäfer, Kerstin; Harrison, Ute; Gouveia, Gabriel; Nussbaum, Claudia; Immler, Roland; Wiessner, Johannes R.; Margraf, Andreas; Lim, Dae-Sik; Walzog, Barbara; Dietzel, Steffen; Moser, Markus; Klein, Christoph; Vestweber, Dietmar; Haas, Rainer; Catz, Sergio D. and Sperandio, Markus (2016): MST1-dependent vesicle trafficking regulates neutrophil transmigration through the vascular basement membrane. In: Journal of Clinical investigation, Vol. 126, No. 11: pp. 4125-4139

Klein, Christoph (2016): Children with rare diseases of neutrophil granulocytes: from therapeutic orphans to pioneers of individualized medicine. In: Hematology: the American Society of Hematology Education Program Book: pp. 33-37

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 and Schmid, Irene (2016): Outcome of HSCT in Adolescents and Young Adults with Non-SCID Primary Immunodeficiencies. In: Biology of Blood and Marrow Transplantation, Vol. 22, No. 3: S235-S235

Shouval, Dror S.; Ebens, Christen L.; Murchie, Ryan; McCann, Katelyn; Rabah, Raja; Klein, Christoph; Muise, Aleixo M. and Snapper, Scott B. (2016): Large B-Cell Lymphoma in an Adolescent Patient With Interleukin-10 Receptor Deficiency and History of Infantile Inflammatory Bowel Disease. In: Journal of Pediatric Gastroenterology and Nutrition, Vol. 63, No. 1, E15-E17

Netter, Petra; Chan, Sanny K.; Banerjee, Pinaki P.; Monaco-Shawver, Linda; Noroski, Lenora M.; Hanson, Imelda C.; Forbes, Lisa R.; Mace, Emily M.; Chinen, Javier; Gaspar, H. Bobby; Sleiman, Patrick; Hakonarson, Hakon; Klein, Christoph; Ehlayel, Mohammad S. and Orange, Jordan S. (2016): A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism. In: Journal of Allergy and Clinical Immunology, Vol. 138, No. 2: pp. 599-601

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 and 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, Vol. 113, No. 51, E8277-E8285

Li, Qi; Lee, Cheng Hiang; Peters, Lauren A.; Mastropaolo, Lucas A.; Thoeni, Cornelia; Elkadri, Abdul; Schwerd, Tobias; Zhu, Jun; Zhang, Bin; Zhao, Yongzhong; Hao, Ke; Dinarzo, Antonio; Hoffman, Gabriel; Kidd, Brian A.; Murchie, Ryan; Al Adham, Ziad; Guo, Conghui; Kotlarz, Daniel; Cutz, Ernest; Walters, Thomas D.; Shouval, Dror S.; Curran, Mark; Dobrin, Radu; Brodmerkel, Carrie; Snapper, Scott B.; Klein, Christoph; Brumell, John H.; Hu, Mingjing; Nanan, Ralph; Snanter-Nanan, Brigitte; Wong, Melanie; Le Deist, Francoise; Haddad, Elie; Roifman, Chaim M.; Deslandres, Colette; Griffiths, Anne M.; Gaskin, Kevin J.; Uhlig, Holm H.; Schadt, Eric E. and Muise, Aleixo M. (2016): Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease. In: Gastroenterology, Vol. 150, No. 5: pp. 1196-1207

Denson, Lee A. and Klein, Christoph (2016): Granulocyte-Macrophage Colony Stimulating Factor Bioactivity and Mucosal Homeostasis in Crohn's Disease: A Role for Genetic Variation. In: Gastroenterology, Vol. 151, No. 4: pp. 593-596

Shouval, Dror S.; Biswas, Amlan; Kang, Yu Hui; Griffith, Alexandra E.; Konnikova, Liza; Mascanfroni, Ivan D.; Redhu, Naresh S.; Frei, Sandra M.; Field, Michael; Doty, Andria L.; Goldsmith, Jeffrey D.; Bhan, Atul K.; Loizides, Anthony; Weiss, Batia; Yerushalmi, Baruch; Yanagi, Tadahiro; Lui, Xiuli; Quintana, Francisco J.; Muise, Aleixo M.; Klein, Christoph; Horwitz, Bruce H.; Glover, Sarah C.; Bousvaros, Athos and Snapper, Scott B. (2016): Interleukin 1 β Mediates Intestinal Inflammation in Mice and Patients With Interleukin 10 Receptor Deficiency. In: Gastroenterology, Vol. 151, No. 6: pp. 1100-1104

Hauck, Fabian; Koletzko, Sibylle; Walz, Christoph; Bernuth, Horst von; Klenk, Anne; Schmid, Irene; Belohradsky, Bernd H.; Klein, Christoph; Bufler, Philip and 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, Vol. 10, No. 1: pp. 112-115

Hauck, Fabian; Wiebking, Volker; Notheis, Gundula; Aumann, Volker; Koletzko, Sibylle; Belohradsky, Bernd H.; Renner, Ellen; Fuehrer, Monika; Tischer, Johanna; Klein, Christoph; Schmid, Irene and 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, Vol. 36, No. 3: p. 267

Griese, Matthias; Zarbock, Ralf; Costabel, Ulrich; Hildebrandt, Jenna; Theegarten, Dirk; Albert, Michael; Thiel, Antonia; Schams, Andrea; Lange, Joanna; Krenke, Katazyrna; Wesselak, Traudl; Schön, Carola; Kappler, Matthias; Blum, Helmut; Krebs, Stefan; Jung, Andreas; Kröner, Carolin; Klein, Christoph; Campo, Ilaria; Luisetti, Maurizio and Bonella, Francesco (2015): GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders. In: BMC Pulmonary Medicine 15:87 [PDF, 1MB]

Rossmann, Friederike S.; Racek, Tomas; Wobser, Dominique; Puchalka, Jacek; Rabener, Elaine M.; Reiger, Matthias; Hendrickx, Antoni P. A.; Diederich, Ann-Kristin; Jung, Kirsten; Klein, Christoph and Huebner, Johannes (2015): Phage-mediated Dispersal of Biofilm and Distribution of Bacterial Virulence Genes Is Induced by Quorum Sensing.
In: PLOS Pathogens 11(2), UNSP e1004653 [PDF, 1MB]

Al-Herz, Waleed; Bousfiha, Aziz; Casanova, Jean-Laurent; Chatila, Talal; Conley, Mary Ellen; Cunningham-Rundles, Charlotte; Etzioni, Amos; Franco, Jose Luis; Gaspar, H. Bobby; Holland, Steven M.; Klein, Christoph; Nonoyama, Shigeaki; Ochs, Hans D.; Oksenhendler, Erik; Picard, Capucine; Puck, Jennifer M.; Sullivan, Kate and Tang, Mimi L. K. (2014): Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency. In: Frontiers in Immunology, Vol. 5, 162 [PDF, 503kB]

Hauck, Fabian and Klein, Christoph (December 2013): Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes. In: Current Opinion in Allergy and Clinical Immunology, Vol. 13, No. 6: pp. 596-606 [PDF, 362kB]

Tiede, Christina; Maecker-Kolhoff, Britta; Klein, Christoph; Kreipe, Hans and Hussein, Kais (February 2013): Risk Factors and Prognosis in T-Cell Posttransplantation Lymphoproliferative Diseases: Reevaluation of 163 Cases. In: Transplantation, Vol. 95, No. 3: pp. 479-488 [PDF, 2MB]

Bender, Stephan; Resch, Franz; Klein, Christoph; Renner, Tobias; Fallgatter, Andreas J.; Weisbrod, Matthias and Romanos, Marcel (2012): Influence of stimulant medication and response speed on lateralization of movement-related potentials in attention-deficit/hyperactivity disorder.
In: PLOS ONE 7(6), e39012 [PDF, 1MB]

This list was generated on Sun Apr 14 09:20:45 2024 CEST.