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DateNumber of items: 133.
Journal article
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, Vol. 44, 1
[PDF, 1MB]
Vallée, Tanja; Schmid, Irene; Gloning, Lisa; Bacova, Martina; Ahrens, Jutta; Feuchtinger, Tobias; Klein, Christoph; Gaertner, Vincent D. und Albert, Michael H. ORCID: https://orcid.org/0000-0001-9143-3263
(2023):
Excellent outcome of stem cell transplantation for sickle cell disease.
In: Annals of Hematology, Vol. 102, No. 11: pp. 3217-3227
[PDF, 1MB]
Schillok, Hannah ORCID: https://orcid.org/0000-0001-6160-2847; Coenen, Michaela ORCID: https://orcid.org/0000-0001-7492-7907; Rehfuess, Eva A. ORCID: 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 und Jung-Sievers, Caroline ORCID: 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: https://orcid.org/0000-0001-7492-7907; Klein, Christoph; Rehfuess, Eva A. ORCID: https://orcid.org/0000-0002-4318-8846; Rhein, Valerie zu; Voigt-Blaurock, Varinka und Jung-Sievers, Caroline ORCID: 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 und 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 und 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. und 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. und 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 und 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 und 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 und 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 und 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 und 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 und 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 und 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. 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, 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 und 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 und 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 und 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 und 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 und 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 und 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 und 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]
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, 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 und 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 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, 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. und 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 und 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 und 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 und 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 und 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 und 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 und 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. und 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 und 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 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, 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 und 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. und 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. und 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 und 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 und 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 und 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. und 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 und 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
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 und 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. und 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. und 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. und 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 und 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 und 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. und 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
Grützner, Eva M.; Neizert, Ashley; Stirner, Renate; Conca, Raffaele; Andrä, Immanuel; Wolff, Lisa; Schiemann, Matthias; Holdt, Lesca M.; Klein, Christoph; Bogner, Johannes R. und 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 und 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. und 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 und 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 und 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 und 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. 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, 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 und 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 und 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. und 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 und 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 und 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. und 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. und 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 und 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. und 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
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 und 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
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 und 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
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 und 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 und 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 und 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
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. 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 und 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 und 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. und 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 und 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 und 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 und 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 und Boztug, Kaan
(2019):
CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.
In: Blood, Vol. 134, No. 18: pp. 1510-1516
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 und 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 und 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 und 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 und 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 und 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 und 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 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, 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. 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, 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 und 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 und 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 und 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. und 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 und 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 und 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 und 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 und 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 und 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 und Hauck, Fabian
(2018):
Epstein–Barr Virus+ Smooth Muscle Tumors as Manifestation of Primary Immunodeficiency Disorders.
In: Frontiers in Immunology, Vol. 9, 368
[PDF, 567kB]
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. und 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 und 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
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 und 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 und 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
Kampers, Johanna; Orjuela-Grimm, Manuela; Schober, Tilmann; Schulz, Thomas F.; Stiefel, Martina; Klein, Christoph; Körholz, Dieter; Mauz-Körholz, Christine; Kreipe, Hans; Beier, Rita und 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. und 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
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, Vol. 22, No. 3: S235-S235
Shouval, Dror S.; Ebens, Christen L.; Murchie, Ryan; McCann, Katelyn; Rabah, Raja; Klein, Christoph; Muise, Aleixo M. und 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. und 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 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, 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. und 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
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 und 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 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, 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 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, 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 und 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 und 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 und 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]
This list was generated on Sun Dec 8 00:52:14 2024 CET.