OpenURL Connection Search

Select item for more details and to access through your institution.

A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.
Published in:
2009
By:
- van der Burg, Mirjam;
- IJspeert, Hanna;
- Verkaik, Nicole S.;
- Turul, Tuba;
- Wiegant, Wouter W.;
- Morotomi-Yano, Keiko;
- Mari, Pierre-Olivier;
- Tezcan, Ilhan;
- Chen, David J.;
- Zdzienicka, Malgorzata Z.;
- van Dongen, Jacques J. M.;
- van Gent, Dik C.
Publication type:
journal article
ImmunoGlobulin galaxy (IGGalaxy) for simple determination and quantitation of immunoglobulin heavy chain rearrangements from NGS.
Published in:
BMC Immunology, 2014, v. 15, n. 1, p. 44, doi. 10.1186/s12865-014-0059-7
By:
- Moorhouse, Michael J.;
- van Zessen, David;
- IJspeert, Hanna;
- Hiltemann, Saskia;
- Horsman, Sebastian;
- van der Spek, Peter J.;
- van der Burg, Mirjam;
- Stubbs, Andrew P.
Publication type:
Article
Disturbed B-lymphocytes selection in autoimmune lymphoproliferative syndrome.
Published in:
2015
By:
- Janda, Aleš;
- Schwarz, Klaus;
- van der Burg, Mirjam;
- Vach, Werner;
- Ijspeert, Hanna;
- Lorenz, Myriam;
- 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
Publication type:
Abstract
Identification of CVID Patients With Defects in Immune Repertoire Formation or Specification.
Published in:
Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.02545
By:
- 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
Publication type:
Article
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.
Published in:
Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.01506
By:
- 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
Publication type:
Article
Delineating Human B Cell Precursor Development With Genetically Identified PID Cases as a Model.
Published in:
Frontiers in Immunology, 2019, v. 10, p. 1, doi. 10.3389/fimmu.2019.02680
By:
- 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
Publication type:
Article
Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans.
Published in:
Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01913
By:
- 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
Publication type:
Article
The presence of CLL-associated stereotypic B cell receptors in the normal BCR repertoire from healthy individuals increases with age.
Published in:
Immunity & Ageing, 2019, v. 16, n. 1, p. N.PAG, doi. 10.1186/s12979-019-0163-x
By:
- Muggen, Alice F.;
- de Jong, Madelon;
- Wolvers-Tettero, Ingrid L. M.;
- Kallemeijn, Martine J.;
- Teodósio, Cristina;
- Darzentas, Nikos;
- Stadhouders, Ralph;
- IJspeert, Hanna;
- van der Burg, Mirjam;
- van IJcken, Wilfred FJ;
- Verhaar, Jan A. N.;
- Abdulahad, Wayel H.;
- Brouwer, Elisabeth;
- Boots, Annemieke M. H.;
- Hendriks, Rudi W.;
- van Dongen, Jacques J. M.;
- Langerak, Anton W.
Publication type:
Article
Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress.
Published in:
2019
By:
- Domínguez Conde, Cecilia;
- Petronczki, Özlem Yüce;
- Baris, Safa;
- Willmann, Katharina L.;
- Girardi, Enrico;
- Salzer, Elisabeth;
- Weitzer, Stefan;
- Chandra Ardy, Rico;
- Krolo, Ana;
- Ijspeert, Hanna;
- Kiykim, Ayca;
- Karakoc-Aydiner, Elif;
- Förster-Waldl, Elisabeth;
- Kager, Leo;
- Pickl, Winfried F.;
- Superti-Furga, Giulio;
- Martínez, Javier;
- Loizou, Joanna I.;
- Ozen, Ahmet;
- van der Burg, Mirjam
Publication type:
journal article
A serum B-lymphocyte activation signature is a key distinguishing feature of the immune response in sarcoidosis compared to tuberculosis.
Published in:
Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06822-1
By:
- Putera, Ikhwanuliman;
- Schrijver, Benjamin;
- Kolijn, P. Martijn;
- van Stigt, Astrid C.;
- ten Berge, Josianne C. E. M.;
- IJspeert, Hanna;
- Nagtzaam, Nicole M. A.;
- Swagemakers, Sigrid M. A.;
- van Laar, Jan A. M.;
- Agrawal, Rupesh;
- Rombach, Saskia M.;
- van Hagen, P. Martin;
- La Distia Nora, Rina;
- Dik, Willem A.
Publication type:
Article
NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome.
Published in:
Science Immunology, 2024, v. 9, n. 95, p. 1, doi. 10.1126/sciimmunol.ade5705
By:
- Chen, Rui;
- Lukianova, Elena;
- van der Loeff, Ina Schim;
- Spegarova, Jarmila Stremenova;
- Willet, Joseph D.P.;
- James, Kieran D.;
- Ryder, Edward J.;
- Griffin, Helen;
- IJspeert, Hanna;
- Gajbhiye, Akshada;
- Lamoliatte, Frederic;
- Marin-Rubio, Jose L.;
- Woodbine, Lisa;
- Lemos, Henrique;
- Swan, David J.;
- Pintar, Valeria;
- Sayes, Kamal;
- Ruiz-Morales, Elias R.;
- Eastham, Simon;
- Dixon, David
Publication type:
Article
IVIg‐induced plasmablasts in patients with Guillain‐Barré syndrome.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 1, p. 129, doi. 10.1002/acn3.687
By:
- Brem, Maarten D.;
- Jacobs, Bart C.;
- Rijs, Wouter;
- Fokkink, Willem Jan R.;
- Tio‐Gillen, Anne P.;
- Walgaard, Christa;
- Doorn, Pieter A.;
- IJspeert, Hanna;
- Burg, Mirjam;
- Huizinga, Ruth
Publication type:
Article
Three patients with defects in interferon gamma receptor signaling: A challenging diagnosis.
Published in:
Pediatric Allergy & Immunology, 2022, v. 33, n. 4, p. 1, doi. 10.1111/pai.13768
By:
- Zhou, Zijun;
- Hollink, Iris H. I. M.;
- Bouman, Arjan;
- Lourens, Mirthe S.;
- Brooimans, Rik A.;
- van Ham, Tjakko J.;
- Fraaij, Pieter L. A.;
- van Rossum, Annemarie M. C.;
- Zijtregtop, Eline A. M.;
- Dik, Willem A.;
- Dalm, Virgil A. S. H.;
- van Hagen, P. Martin;
- Ijspeert, Hanna;
- Vermont, Clementien L.
Publication type:
Article
Treatment Strategies for GLILD in Common Variable Immunodeficiency: A Systematic Review.
Published in:
Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2021.606099
By:
- 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
Publication type:
Article
What Works When Treating Granulomatous Disease in Genetically Undefined CVID? A Systematic Review.
Published in:
Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.606389
By:
- 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
Publication type:
Article
Soluble Interleukin-2 Receptor/White Blood Cell Ratio Reflects Granulomatous Disease Progression in Common Variable Immune Deficiency.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 1754, doi. 10.1007/s10875-023-01560-1
By:
- van Stigt, Astrid C.;
- Dalm, Virgil A. S. H.;
- Nagtzaam, Nicole M. A.;
- van Hagen, P. Martin;
- Dik, Willem A.;
- IJspeert, Hanna
Publication type:
Article
Soluble Interleukin-2 Receptor Is a Promising Serum Biomarker for Granulomatous Disease in Common Variable Immune Deficiency.
Published in:
2021
By:
- 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.
Publication type:
Letter
Immunodeficiency in Bloom's Syndrome.
Published in:
Journal of Clinical Immunology, 2018, v. 38, n. 1, p. 35, doi. 10.1007/s10875-017-0454-y
By:
- Schoenaker, Michiel H. D.;
- Henriet, Stefanie S.;
- Zonderland, Jip;
- van Deuren, Marcel;
- Pan-Hammarström, Qiang;
- Posthumus-van Sluijs, Sandra J.;
- Pico-Knijnenburg, Ingrid;
- Weemaes, Corry M. R.;
- IJspeert, Hanna
Publication type:
Article
Unraveling the immunogenetics of STAT proteins: Clinical perspectives on gain-of-function and loss-of-function variants.
Published in:
Asian Pacific Journal of Allergy & Immunology, 2024, v. 42, n. 2, p. 105, doi. 10.12932/ap-270124-1776
By:
- Kornvalee Meesilpavikkai;
- Nattiya Hirankarn;
- Dalm, Virgil A. S. H.;
- van Hagen, P. Martin;
- Dik, Willem A.;
- IJspeert, Hanna
Publication type:
Article
Did variants in inborn errors of immunity genes contribute to the extinction of Neanderthals?
Published in:
Asian Pacific Journal of Allergy & Immunology, 2022, v. 40, n. 4, p. 422, doi. 10.12932/ap-251022-1489
By:
- Zijun Zhou;
- A Swagemakers, Sigrid M.;
- Lourens, Mirthe S.;
- Suratannon, Narissara;
- van der Spek, Peter J.;
- Dalm, Virgil A. S. H.;
- Dik, Willem A.;
- IJspeert, Hanna;
- van Hagen, P. Martin
Publication type:
Article
Clinical Spectrum of LIG4 Deficiency Is Broadened with Severe Dysmaturity, Primordial Dwarfism, and Neurological Abnormalities.
Published in:
Human Mutation, 2013, v. 34, n. 12, p. 1611, doi. 10.1002/humu.22436
By:
- IJspeert, Hanna;
- Warris, Adilia;
- Flier, Michiel;
- Reisli, Ismail;
- Keles, Sevgi;
- Chishimba, Sandra;
- Dongen, Jacques J.M.;
- Gent, Dik C.;
- Burg, Mirjam
Publication type:
Article
Bioinformatic meta-analysis reveals novel differentially expressed genes and pathways in sarcoidosis.
Published in:
Frontiers in Medicine, 2024, p. 1, doi. 10.3389/fmed.2024.1381031
By:
- 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.
Publication type:
Article
Human IgG2- and IgG4-expressing memory B cells display enhanced molecular and phenotypic signs of maturity and accumulate with age.
Published in:
Immunology & Cell Biology, 2017, v. 95, n. 9, p. 744, doi. 10.1038/icb.2017.43
By:
- Jong, Britt G;
- IJspeert, Hanna;
- Marques, Lemelinda;
- Burg, Mirjam;
- Dongen, Jacques JM;
- Loos, Bruno G;
- Zelm, Menno C
Publication type:
Article
Strategies for B-cell receptor repertoire analysis in primary immunodeficiencies: from severe combined immunodeficiency to common variable immunodeficiency.
Published in:
Frontiers in Immunology, 2015, v. 6, p. 1, doi. 10.3389/fimmu.2015.00157
By:
- IJspeert, Hanna;
- Wentink, Marjolein;
- van Zessen, David;
- Driessen, Gertjan J.;
- Dalm, Virgil A. S. H.;
- van Hagen, Martin P.;
- Pico-Knijnenburg, Ingrid;
- Simons, Erik J.;
- van Dongen, Jacques J. M.;
- Stubbs, Andrew P.;
- van der Burg, Mirjam
Publication type:
Article

Found: 24