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Anzahl der Publikationen: 15
Zeitschriftenartikel
Haimel, Matthias; Pazmandi, Julia; Heredia, Raul Jimenez; Dmytrus, Jasmin; Bal, Sevgi Koestel; Zoghi, Samaneh; Daele, Paul van; Briggs, Tracy A.; Wouters, Carine; Bader-Meunier, Brigitte; Aeschlimann, Florence A.; Caorsi, Roberta; Eleftheriou, Despina; Hoppenreijs, Esther; Salzer, Elisabeth; Bakhtiar, Shahrzad; Derfalvi, Beata; Saettini, Francesco; Kusters, Maaike A. A.; Elfeky, Reem; Truck, Johannes; Riviere, Jacques G.; Burg, Mirjam van der; Gattorno, Marco; Seidel, Markus G.; Burns, Siobhan; Warnatz, Klaus; Hauck, Fabian; Brogan, Paul; Gilmour, Kimberly C.; Schuetz, Catharina; Simon, Anna; Bock, Christoph; Hambleton, Sophie; Vries, Esther de; Robinson, Peter N.; Gijn, Marielle van und Boztug, Kaan
(2022):
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
In: Journal of Allergy and Clinical Immunology, Bd. 149, Nr. 1: S. 369-378
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, Bd. 95, Nr. 4, e13136
Momtazmanesh, Sara; Rayzan, Elham; Zoghi, Samaneh; Shahkarami, Sepideh; Molatefi, Rasol; Mohammadzadeh, Iraj; Ghaffari, Javad; Mahmoudi, Hamidreza; Dmytrus, Jasmin; Segarra-Roca, Anna; Somekh, Ido; Witzel, Maximilian; Hauck, Fabian; Boztug, Kaan; Klein, Christoph und Rezaei, Nima
(2022):
Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients.
In: Endocrine Metabolic & Immune Disorders - Drug Targets, Bd. 22, Nr. 1: S. 159-168
Danandeh, Khashayar; Jabbari, Parnian; Rayzan, Elham; Zoghi, Samaneh; Shahkarami, Sepideh; Heredia, Raul Jimenez; Krolo, Ana; Shamsian, Bibi Shahin; Boztug, Kaan und Rezaei, Nima
(2022):
Case Report of a Novel NFkB Mutation in a Lymphoproliferative Disorder Patient.
In: Endocrine Metabolic & Immune Disorders - Drug Targets, Bd. 22, Nr. 10: S. 1040-1046
Shafeghat, Melika; Esmaeilzadeh, Hossein; Sadeghalvad, Mona; Rayzan, Elham; Zoghi, Samaneh; Shahkarami, Sepideh; Heredia, Raul Jimenez; Krolo, Ana; Boztug, Kaan und Rezaei, Nima
(2021):
A novel homozygous RAG1 mutation is associated with severe combined immunodeficiency and neurological presentations.
In: Allergologia et Immunopathologia, Bd. 49, Nr. 4: S. 91-97
Shaka, Zoha; Mojtabavi, Helia; Rayzan, Elham; Zoghi, Samaneh; Shahkarami, Sepideh; Raul, Jimenez Heredia; Sedighi, Iraj; Boztug, Kaan und Rezaei, Nima
(2021):
Novel BTK mutation in X-linked agammaglobulinemia: Report of a 17-year-old male.
In: Allergologia et Immunopathologia, Bd. 49, Nr. 2: S. 80-83
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, Bd. 53, Nr. 4: S. 500-510
Hanitsch, Leif; Baumann, Ulrich; Boztug, Kaan; Burkhard-Meier, Ulrike; Fasshauer, Maria; Habermehl, Pirmin; Hauck, Fabian; Klock, Gerd; Liese, Johannes; Meyer, Oliver; Müller, Rainer; Pachlopnik-Schmid, Jana; Pfeiffer-Kascha, Dorothea; Warnatz, Klaus; Wehr, Claudia; Wittke, Kirsten; Niehues, Tim und Bernuth, Horst von
(2020):
Treatment and management of primary antibody deficiency: German interdisciplinary evidence-based consensus guideline.
In: European Journal of Immunology, Bd. 50, Nr. 10: S. 1432-1446
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, Bd. 146, Nr. 4: S. 901-911
Ghosh, Sujal; Bal, Sevgi Koestel; Edwards, Emily S. J.; Pillay, Bethany; Heredia, Raul Jimenez; Cipe, Funda Erol; Rao, Geetha; Salzer, Elisabeth; Zoghi, Samaneh; Abolhassani, Hassan; Momen, Tooba; Gostick, Emma; Price, David A.; Zhang, Yu; Oler, Andrew J.; Gonzaga-Jauregui, Claudia; Erman, Baran; Metin, Ayse; Ilhan, Inci; Haskologlu, Sule; Islamoglu, Candan; Baskin, Kubra; Ceylaner, Serdar; Yilmaz, Ebru; Unal, Ekrem; Karakukcu, Musa; Berghuis, Dagmar; Cole, Theresa; Gupta, Aditya K.; Hauck, Fabian; Kogler, Hubert; Hoepelman, Andy I. M.; Baris, Safa; Karakoc-Aydiner, Elif; Ozen, Ahmet; Kager, Leo; Holzinger, Dirk; Paulussen, Michael; Krueger, Renate; Meisel, Roland; Oommen, Prasad T.; Morris, Emma; Neven, Benedicte; Worth, Austen; Montfrans, Joris van; Fraaij, Pieter L. A.; Choo, Sharon; Dogu, Figen; Davies, E. Graham; Burns, Siobhan; Duckers, Gregor; Becker, Ruy Perez; von Bernuth, Horst; Latour, Sylvain; Faraci, Maura; Gattorno, Marco; Su, Helen C.; Pan-Hammarstroem, Qiang; Hammarstroem, Lennart; Lenardo, Michael J.; Ma, Cindy S.; Niehues, Tim; Aghamohammadi, Asghar; Rezaei, Nima; Ikinciogullari, Aydan; Tangye, Stuart G.; Lankester, Arjan C. und Boztug, Kaan
(2020):
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.
In: Blood, Bd. 136, Nr. 23: S. 2638-2655
Somekh, Ido; Thian, Marini; Medgyesi, David; Gulez, Nesrin; Magg, Thomas; Gallon Duque, Alejandro; Stauber, Tali; Lev, Atar; Genel, Ferah; Unal, Ekrem; Simon, Amos J.; Lee, Yu Nee; Kalinichenko, Artem; Dmytrus, Jasmin; Kraakman, Michael J.; Schiby, Ginette; Rohlfs, Meino; Jacobson, Jeffrey M.; Ozer, Erdener; Akcal, Omer; Conca, Raffaele; Patiroglu, Turkan; Karakukcu, Musa; Ozcan, Alper; Shahin, Tala; Appella, Eliana; Tatematsu, Megumi; Martinez-Jaramillo, Catalina; Chinn, Ivan K.; Orange, Jordan S.; Milena Trujillo-Vargas, Claudia; Luis Franco, Jose; Hauck, Fabian; Somech, Raz; Klein, Christoph und Boztug, Kaan
(2019):
CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.
In: Blood, Bd. 134, Nr. 18: S. 1510-1516
Shahin, Tala; Aschenbrenner, Dominik; Cagdas, Deniz; Bal, Sevgi Koestel; Conde, Cecilia Dominguez; Garncarz, Wojciech; Medgyesi, David; Schwerd, Tobias; Karaatmaca, Betul; Cetinkaya, Pinar Gur; Esenboga, Saliha; Twigg, Stephen R. F.; Cant, Andrew; Wilkie, Andrew O. M.; Tezcan, Ilhan; Uhlig, Holm H. und Boztug, Kaan
(2019):
Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.
In: Haematologica, Bd. 104, Nr. 3: S. 609-621
Schwinger, Wolfgang; Urban, Christian; Ulreich, Raphael; Sperl, Daniela; Karastaneva, Anna; Strenger, Volker; Lackner, Herwig; Boztug, Kaan; Albert, Michael H.; Benesch, Martin und Seidel, Markus G.
(2018):
The Phenotype and Treatment of WIP Deficiency: Literature Synopsis and Review of a Patient With Pre-transplant Serial Donor Lymphocyte Infusions to Eliminate CMV.
In: Frontiers in Immunology, Bd. 9, 2554
[PDF, 688kB]
Bomken, Simon; Werff Ten Bosch, Jutte van der; Attarbaschi, Andishe; Bacon, Chris M.; Borkhardt, Arndt; Boztug, Kaan; Fischer, Ute; Hauck, Fabian; Kuiper, Roland P.; Lammens, Tim; Loeffen, Jan; Neven, Benedicte; Pan-Hammarstrom, Qiang; Quinti, Isabella; Seidel, Markus G.; Warnatz, Klaus; Wehr, Claudia; Lankester, Arjan C. und Gennery, Andrew R.
(2018):
Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group.
In: Frontiers in Immunology, Bd. 9, 2912
[PDF, 803kB]
Hauck, Fabian; Magg, Thomas; Krolo, Ana; Bilic, Ivan; Hirschmugl, Tatjana; Laass, Martin; Rösen-Wolff, Angela; Luksch, Hella; Boztug, Kaan und Rösler, Joachim
(2017):
Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma.
In: Klinische Pädiatrie, Bd. 229, Nr. 3: S. 113-117