Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency
Driessen, Gertjan J., MD, PhD, IJspeert, Hanna, PhD, Wentink, Marjolein, MD, Yntema, Helger G., MD, PhD, van Hagen, P. Martin, MD, PhD, van Strien, Arthur, MSc, Bucciol, Giorgia, MD, Cogulu, Ozgur, MD, Trip, Margreet, MD, Nillesen, Willy, MD, PhD, Peeters, Els A., MD, PhD, Pico-Knijnenburg, Ingrid, BSc, Barendregt, Barbara H., BSc, Rizzi, Marta, MD, PhD, van Dongen, Jacques J., MD, PhD, Kutukculer, Necil, MD, PhD, van der Burg, Mirjam, PhD
Published in Journal of allergy and clinical immunology (01.12.2016)
Published in Journal of allergy and clinical immunology (01.12.2016)
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Journal Article
Mutations affecting the actin regulator WD repeat–containing protein 1 lead to aberrant lymphoid immunity
Pfajfer, Laurène, Mair, Nina K., Jiménez-Heredia, Raúl, Genel, Ferah, Gulez, Nesrin, Ardeniz, Ömür, Hoeger, Birgit, Bal, Sevgi Köstel, Madritsch, Christoph, Kalinichenko, Artem, Chandra Ardy, Rico, Gerçeker, Bengü, Rey-Barroso, Javier, Ijspeert, Hanna, Tangye, Stuart G., Simonitsch-Klupp, Ingrid, Huppa, Johannes B., van der Burg, Mirjam, Dupré, Loïc, Boztug, Kaan
Published in Journal of allergy and clinical immunology (01.11.2018)
Published in Journal of allergy and clinical immunology (01.11.2018)
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Journal Article
Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts
Horos, Rastislav, IJspeert, Hanna, Pospisilova, Dagmar, Sendtner, Regine, Andrieu-Soler, Charlotte, Taskesen, Erdogan, Nieradka, Andrzej, Cmejla, Radek, Sendtner, Michael, Touw, Ivo P., von Lindern, Marieke
Published in Blood (05.01.2012)
Published in Blood (05.01.2012)
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Journal Article
Antigen Receptor Galaxy: A User-Friendly, Web-Based Tool for Analysis and Visualization of T and B Cell Receptor Repertoire Data
IJspeert, Hanna, van Schouwenburg, Pauline A, van Zessen, David, Pico-Knijnenburg, Ingrid, Stubbs, Andrew P, van der Burg, Mirjam
Published in The Journal of immunology (1950) (15.05.2017)
Published in The Journal of immunology (1950) (15.05.2017)
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Journal Article
Similar recombination-activating gene ( RAG ) mutations result in similar immunobiological effects but in different clinical phenotypes
IJspeert, Hanna, MSc, Driessen, Gertjan J., MD, PhD, Moorhouse, Michael J., PhD, Hartwig, Nico G., MD, PhD, Wolska-Kusnierz, Beata, MD, Kalwak, Krzysztof, MD, Pituch-Noworolska, Anna, MD, Kondratenko, Irina, MD, van Montfrans, Joris M., MD, PhD, Mejstrikova, Ester, MD, Lankester, Arjan C., MD, PhD, Langerak, Anton W., PhD, van Gent, Dik C., PhD, Stubbs, Andrew P., PhD, van Dongen, Jacques J.M., MD, PhD, van der Burg, Mirjam, PhD
Published in Journal of allergy and clinical immunology (01.04.2014)
Published in Journal of allergy and clinical immunology (01.04.2014)
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Journal Article
Protein functionality as a potential bottleneck for somatic revertant variants
Kaiser, Fabian M.P., Reisli, Ismail, Pico-Knijnenburg, Ingrid, Langerak, Anton W., Kavelaars, François G., Artac, Hasibe, IJspeert, Hanna, van der Burg, Mirjam
Published in Journal of allergy and clinical immunology (01.01.2021)
Published in Journal of allergy and clinical immunology (01.01.2021)
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Journal Article
Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism
Murray, Jennie E., van der Burg, Mirjam, IJspeert, Hanna, Carroll, Paula, Wu, Qian, Ochi, Takashi, Leitch, Andrea, Miller, Edward S., Kysela, Boris, Jawad, Alireza, Bottani, Armand, Brancati, Francesco, Cappa, Marco, Cormier-Daire, Valerie, Deshpande, Charu, Faqeih, Eissa A., Graham, Gail E., Ranza, Emmanuelle, Blundell, Tom L., Jackson, Andrew P., Stewart, Grant S., Bicknell, Louise S.
Published in American journal of human genetics (05.03.2015)
Published in American journal of human genetics (05.03.2015)
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Journal Article
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity
Driessen, Gertjan J., MD, IJspeert, Hanna, MSc, Weemaes, Corry M.R., MD, PhD, Haraldsson, Ásgeir, MD, PhD, Trip, Margreet, MD, Warris, Adilia, MD, PhD, van der Flier, Michiel, MD, PhD, Wulffraat, Nico, MD, PhD, Verhagen, Mijke M.M., MD, PhD, Taylor, Malcolm A., MD, PhD, van Zelm, Menno C., PhD, van Dongen, Jacques J.M., MD, PhD, van Deuren, Marcel, MD, PhD, van der Burg, Mirjam, PhD
Published in Journal of allergy and clinical immunology (01.05.2013)
Published in Journal of allergy and clinical immunology (01.05.2013)
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Journal Article
Evaluation of the Antigen-Experienced B-Cell Receptor Repertoire in Healthy Children and Adults
IJspeert, Hanna, van Schouwenburg, Pauline A, van Zessen, David, Pico-Knijnenburg, Ingrid, Driessen, Gertjan J, Stubbs, Andrew P, van der Burg, Mirjam
Published in Frontiers in immunology (17.10.2016)
Published in Frontiers in immunology (17.10.2016)
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Journal Article
Soluble Interleukin-2 Receptor Is a Promising Serum Biomarker for Granulomatous Disease in Common Variable Immune Deficiency
van Stigt, Astrid C., Dalm, Virgil A. S. H., Nagtzaam, Nicole M. A., van Rijswijk, Damian A., Barendregt, Barbara H., van Hagen, P. Martin, IJspeert, Hanna, Dik, Willem A.
Published in Journal of clinical immunology (01.04.2021)
Published in Journal of clinical immunology (01.04.2021)
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Journal Article
Treatment Strategies for GLILD in Common Variable Immunodeficiency: A Systematic Review
Lamers, Olivia A C, Smits, Bas M, Leavis, Helen Louisa, de Bree, Godelieve J, Cunningham-Rundles, Charlotte, Dalm, Virgil A S H, Ho, Hsi-En, Hurst, John R, IJspeert, Hanna, Prevaes, Sabine M P J, Robinson, Alex, van Stigt, Astrid C, Terheggen-Lagro, Suzanne, van de Ven, Annick A J M, Warnatz, Klaus, van de Wijgert, Janneke H H M, van Montfrans, Joris
Published in Frontiers in immunology (15.04.2021)
Published in Frontiers in immunology (15.04.2021)
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Journal Article
What Works When Treating Granulomatous Disease in Genetically Undefined CVID? A Systematic Review
van Stigt, Astrid C, Dik, Willem A, Kamphuis, Lieke S J, Smits, Bas M, van Montfrans, Joris M, van Hagen, P Martin, Dalm, Virgil A S H, IJspeert, Hanna
Published in Frontiers in immunology (17.12.2020)
Published in Frontiers in immunology (17.12.2020)
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Journal Article
Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome
Janda, Ales, Schwarz, Klaus, van der Burg, Mirjam, Vach, Werner, Ijspeert, Hanna, Lorenz, Myriam Ricarda, Elgizouli, Magdeldin, Pieper, Kathrin, Fisch, Paul, Hagel, Joachim, Lorenzetti, Raquel, Seidl, Maximilian, Roesler, Joachim, Hauck, Fabian, Traggiai, Elisabetta, Speckmann, Carsten, Rensing-Ehl, Anne, Ehl, Stephan, Eibel, Hermann, Rizzi, Marta
Published in Blood (05.05.2016)
Published in Blood (05.05.2016)
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Journal Article
Delineating Human B Cell Precursor Development With Genetically Identified PID Cases as a Model
Wentink, Marjolein W J, Kalina, Tomas, Perez-Andres, Martin, Del Pino Molina, Lucia, IJspeert, Hanna, Kavelaars, François G, Lankester, Arjan C, Lecrevisse, Quentin, van Dongen, Jacques J M, Orfao, Alberto, van der Burg, Mirjam
Published in Frontiers in immunology (26.11.2019)
Published in Frontiers in immunology (26.11.2019)
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Journal Article
XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination
IJspeert, Hanna, Rozmus, Jacob, Schwarz, Klaus, Warren, René L., van Zessen, David, Holt, Robert A., Pico-Knijnenburg, Ingrid, Simons, Erik, Jerchel, Isabel, Wawer, Angela, Lorenz, Myriam, Patıroğlu, Turkan, Akar, Himmet Haluk, Leite, Ricardo, Verkaik, Nicole S., Stubbs, Andrew P., van Gent, Dik C., van Dongen, Jacques J.M., van der Burg, Mirjam
Published in Blood (04.08.2016)
Published in Blood (04.08.2016)
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Journal Article
Identification of CVID Patients With Defects in Immune Repertoire Formation or Specification
van Schouwenburg, Pauline A, IJspeert, Hanna, Pico-Knijnenburg, Ingrid, Dalm, Virgil A S H, van Hagen, P Martin, van Zessen, David, Stubbs, Andrew P, Patel, Smita Y, van der Burg, Mirjam
Published in Frontiers in immunology (23.11.2018)
Published in Frontiers in immunology (23.11.2018)
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Journal Article
Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans
IJspeert, Hanna, van Schouwenburg, Pauline A, Pico-Knijnenburg, Ingrid, Loeffen, Jan, Brugieres, Laurence, Driessen, Gertjan J, Blattmann, Claudia, Suerink, Manon, Januszkiewicz-Lewandowska, Danuta, Azizi, Amedeo A, Seidel, Marcus G, Jacobs, Heinz, van der Burg, Mirjam
Published in Frontiers in immunology (27.08.2019)
Published in Frontiers in immunology (27.08.2019)
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Journal Article
Bioinformatic meta-analysis reveals novel differentially expressed genes and pathways in sarcoidosis
van Wijck, Rogier T A, Sharma, Hari S, Swagemakers, Sigrid M A, Dik, Willem A, IJspeert, Hanna, Dalm, Virgil A S H, van Daele, Paul L A, van Hagen, P Martin, van der Spek, Peter J
Published in Frontiers in medicine (13.06.2024)
Published in Frontiers in medicine (13.06.2024)
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Journal Article
Identification of checkpoints in human T-cell development using severe combined immunodeficiency stem cells
Wiekmeijer, Anna-Sophia, MSc, Pike-Overzet, Karin, PhD, IJspeert, Hanna, PhD, Brugman, Martijn H., PhD, Wolvers-Tettero, Ingrid L.M., BSc, Lankester, Arjan C., MD, PhD, Bredius, Robbert G.M., MD, PhD, van Dongen, Jacques J.M., MD, PhD, Fibbe, Willem E., MD, PhD, Langerak, Anton W., PhD, van der Burg, Mirjam, PhD, Staal, Frank J.T., PhD
Published in Journal of allergy and clinical immunology (01.02.2016)
Published in Journal of allergy and clinical immunology (01.02.2016)
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Journal Article
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency
Tesch, Victoria K, IJspeert, Hanna, Raicht, Andrea, Rueda, Daniel, Dominguez-Pinilla, Nerea, Allende, Luis M, Colas, Chrystelle, Rosenbaum, Thorsten, Ilencikova, Denisa, Baris, Hagit N, Nathrath, Michaela H M, Suerink, Manon, Januszkiewicz-Lewandowska, Danuta, Ragab, Iman, Azizi, Amedeo A, Wenzel, Soeren S, Zschocke, Johannes, Schwinger, Wolfgang, Kloor, Matthias, Blattmann, Claudia, Brugieres, Laurence, van der Burg, Mirjam, Wimmer, Katharina, Seidel, Markus G
Published in Frontiers in immunology (02.07.2018)
Published in Frontiers in immunology (02.07.2018)
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Journal Article