Development of multiple gallstones in a child with lipopolysaccharide-responsive beige-like anchor protein mutation

por Kutluǧ, Şeyhan, Boztuǧ, Kaan, Yıldıran, Alişan
Publicado 2019

Actin Dynamics at the T Cell Synapse as Revealed by Immune-Related Actinopathies

por Dupré, Loïc, Boztug, Kaan, Pfajfer, Laurène
Publicado 2021

Human NF-κB1 Haploinsufficiency and Epstein–Barr Virus-Induced Disease—Molecular Mechanisms and Consequences

por Hoeger, Birgit, Serwas, Nina Kathrin, Boztug, Kaan
Publicado 2018

Interleukin-2-Inducible T-Cell Kinase (ITK) Deficiency - Clinical and Molecular Aspects

por Ghosh, Sujal, Bienemann, Kirsten, Boztug, Kaan, Borkhardt, Arndt
Publicado 2014

Early‐onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms

por Pazmandi, Julia, Kalinichenko, Artem, Ardy, Rico Chandra, Boztug, Kaan
Publicado 2018

Protein Kinase C δ: a Gatekeeper of Immune Homeostasis

por Salzer, Elisabeth, Santos-Valente, Elisangela, Keller, Bärbel, Warnatz, Klaus, Boztug, Kaan
Publicado 2016

A Novel Mutation in the Complement Component 3 Gene in a Patient with Selective IgA Deficiency

por Santos-Valente, Elisangela, Reisli, Ismail, Artaç, Hasibe, Ott, Raphael, Sanal, Özden, Boztug, Kaan
Publicado 2012

Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient

por Moradian, Negar, Zoghi, Samaneh, Rayzan, Elham, Seyedpour, Simin, Jimenez Heredia, Raul, Boztug, Kaan, Rezaei, Nima
Publicado 2023

VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data

por Müller, Heiko, Jimenez-Heredia, Raul, Krolo, Ana, Hirschmugl, Tatjana, Dmytrus, Jasmin, Boztug, Kaan, Bock, Christoph
Publicado 2017

BCGitis as the primary manifestation of chronic granulomatous disease

por Khalili, Nastaran, Mohammadzadeh, Iraj, Khalili, Neda, Heredia, Raúl Jimenez, Zoghi, Samaneh, Boztug, Kaan, Rezaei, Nima
Publicado 2020

Gene therapy for Wiskott-Aldrich Syndrome—Long-term reconstitution and clinical benefits, but increased risk for leukemogenesis

por Braun, Christian Joerg, Witzel, Maximilian, Paruzynski, Anna, Boztug, Kaan, von Kalle, Christof, Schmidt, Manfred, Klein, Christoph
Publicado 2014

A novel X-linked mutation in IL2RG associated with early-onset inflammatory bowel disease: a case report of twin brothers

por Rayzan, Elham, Sadeghalvad, Mona, Shahkarami, Sepideh, Zoghi, Samaneh, Aryan, Zahra, Mahdaviani, Seyed Alireza, Boztug, Kaan, Rezaei, Nima
Publicado 2023

Expanding the Interactome of the Noncanonical NF-κB Signaling Pathway

por Willmann, Katharina L., Sacco, Roberto, Martins, Rui, Garncarz, Wojciech, Krolo, Ana, Knapp, Sylvia, Bennett, Keiryn L., Boztug, Kaan
Publicado 2016

NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation

por Boztug, Heidrun, Hirschmugl, Tatjana, Holter, Wolfgang, Lakatos, Karoly, Kager, Leo, Trapin, Doris, Pickl, Winfried, Förster-Waldl, Elisabeth, Boztug, Kaan
Publicado 2016

Occurrence of autoimmune pancreatitis after chronic immune thrombocytopenia in a Caucasian adolescent

por Kogler, Hubert, Novak, Wolfgang, Vécsei, Andreas, Zachbauer, Christina, Huber, Wolf-Dietrich, Lakatos, Karoly, Woeran, Katharina, Stift, Judith, Boztug, Kaan, Kager, Leo
Publicado 2021

Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor

por Poyer, Fiona, Jimenez Heredia, Raúl, Novak, Wolfgang, Zeitlhofer, Petra, Nebral, Karin, Dworzak, Michael N., Haas, Oskar A., Boztug, Kaan, Kager, Leo
Publicado 2022

An R307H substitution in GATA1 that prevents Ser310 phosphorylation causes severe fetal anemia

por Hetzer, Benjamin, Meryk, Andreas, Kropshofer, Gabriele, Bargehr, Caroline, Jimenez-Heredia, Raul, Boztug, Kaan, Mühlegger, Beatrix E., Dworzak, Michael, Gruber, Thomas, Crazzolara, Roman
Publicado 2022

The Phenotype and Treatment of WIP Deficiency: Literature Synopsis and Review of a Patient With Pre-transplant Serial Donor Lymphocyte Infusions to Eliminate CMV

por Schwinger, Wolfgang, Urban, Christian, Ulreich, Raphael, Sperl, Daniela, Karastaneva, Anna, Strenger, Volker, Lackner, Herwig, Boztug, Kaan, Albert, Michael H., Benesch, Martin, Seidel, Markus G.
Publicado 2018

The VRNetzer platform enables interactive network analysis in Virtual Reality

por Pirch, Sebastian, Müller, Felix, Iofinova, Eugenia, Pazmandi, Julia, Hütter, Christiane V. R., Chiettini, Martin, Sin, Celine, Boztug, Kaan, Podkosova, Iana, Kaufmann, Hannes, Menche, Jörg
Publicado 2021

Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine dea...

por Drago, Enrico, Garbarino, Francesca, Signa, Sara, Grossi, Alice, Schena, Francesca, Penco, Federica, Santori, Elettra, Candotti, Fabio, Boztug, Kaan, Volpi, Stefano, Gattorno, Marco, Caorsi, Roberta
Publicado 2022