Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency von 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

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Mutations affecting the actin regulator WD repeat–containing protein 1 lead to aberrant lymphoid immunity von 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

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Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts von 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

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Antigen Receptor Galaxy: A User-Friendly, Web-Based Tool for Analysis and Visualization of T and B Cell Receptor Repertoire Data von IJspeert, Hanna, van Schouwenburg, Pauline A, van Zessen, David, Pico-Knijnenburg, Ingrid, Stubbs, Andrew P, van der Burg, Mirjam

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Similar recombination-activating gene ( RAG ) mutations result in similar immunobiological effects but in different clinical phenotypes von 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

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Protein functionality as a potential bottleneck for somatic revertant variants von Kaiser, Fabian M.P., Reisli, Ismail, Pico-Knijnenburg, Ingrid, Langerak, Anton W., Kavelaars, François G., Artac, Hasibe, IJspeert, Hanna, van der Burg, Mirjam

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Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism von 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.

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Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity von 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

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Evaluation of the Antigen-Experienced B-Cell Receptor Repertoire in Healthy Children and Adults von IJspeert, Hanna, van Schouwenburg, Pauline A, van Zessen, David, Pico-Knijnenburg, Ingrid, Driessen, Gertjan J, Stubbs, Andrew P, van der Burg, Mirjam

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Soluble Interleukin-2 Receptor Is a Promising Serum Biomarker for Granulomatous Disease in Common Variable Immune Deficiency von 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.

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Treatment Strategies for GLILD in Common Variable Immunodeficiency: A Systematic Review von 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

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What Works When Treating Granulomatous Disease in Genetically Undefined CVID? A Systematic Review von 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

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Delineating Human B Cell Precursor Development With Genetically Identified PID Cases as a Model von 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

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Identification of CVID Patients With Defects in Immune Repertoire Formation or Specification von 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

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Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome von 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

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XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination von 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

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Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans von 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

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Bioinformatic meta-analysis reveals novel differentially expressed genes and pathways in sarcoidosis von 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

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Identification of checkpoints in human T-cell development using severe combined immunodeficiency stem cells von 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

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No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency von 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

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