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  1. 2020

  2. Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

    NIHR-BioResource – Rare Diseases Consortium, Oct 2020, In: Journal of allergy and clinical immunology. 146, 4, p. 901-911 11 p.

    Research output: Contribution to journal › Article › Academic › peer-review

  3. Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)

    Thaventhiran, J. E. D., Lango Allen, H., Burren, O. S., Rae, W., Greene, D., Staples, E., Zhang, Z., Farmery, J. H. R., Simeoni, I., Rivers, E., Maimaris, J., Penkett, C. J., Stephens, J., Deevi, S. V. V., Sanchis-Juan, A., Gleadall, N. S., Thomas, M. J., Sargur, R. B., Gordins, P., Baxendale, H. E., & 31 othersBrown, M., Tuijnenburg, P., Worth, A., Hanson, S., Linger, R. J., Buckland, M. S., Rayner-Matthews, P. J., Gilmour, K. C., Samarghitean, C., Seneviratne, S. L., Sansom, D. M., Lynch, A. G., Megy, K., Ellinghaus, E., Ellinghaus, D., Jorgensen, S. F., Karlsen, T. H., Stirrups, K. E., Cutler, A. J., Kumararatne, D. S., Chandra, A., Edgar, J. D. M., Herwadkar, A., Cooper, N., Grigoriadou, S., de Bree, G. J., Kuijpers, T. W., Sivapalaratnam, S., Walsh, R., Primary Immunodeficiency Consortium for the NIHR Bioresource & Kuijpers, T. W., 6 Aug 2020, In: Nature. 584, 7819, p. E2

    Research output: Contribution to journal › Erratum/Corrigendum › Academic

  4. Whole-genome sequencing of a sporadic primary immunodeficiency cohort

    Primary Immunodeficiency Consortium for the NIHR Bioresource, Thaventhiran, J. E. D., Lango Allen, H., Burren, O. S., Rae, W., Greene, D., Staples, E., Zhang, Z., Farmery, J. H. R., Simeoni, I., Rivers, E., Maimaris, J., Penkett, C. J., Stephens, J., Deevi, S. V. V., Sanchis-Juan, A., Gleadall, N. S., Thomas, M. J., Sargur, R. B., Gordins, P., & 31 othersBaxendale, H. E., Brown, M., Tuijnenburg, P., Worth, A., Hanson, S., Linger, R. J., Buckland, M. S., Rayner-Matthews, P. J., Gilmour, K. C., Samarghitean, C., Seneviratne, S. L., Sansom, D. M., Lynch, A. G., Megy, K., Ellinghaus, E., Ellinghaus, D., Jorgensen, S. F., Karlsen, T. H., Stirrups, K. E., Cutler, A. J., Kumararatne, D. S., Chandra, A., Edgar, J. D. M., Herwadkar, A., Cooper, N., Grigoriadou, S., de Bree, G. J., Kuijpers, T. W., Sivapalaratnam, S., Walsh, R. & Kuijpers, T. W., 2 Jul 2020, In: Nature. 583, 7814, p. 90-95 6 p.

    Research output: Contribution to journal › Article › Academic › peer-review

  5. High-throughput compound screen reveals mTOR inhibitors as potential therapeutics to reduce (auto)antibody production by human plasma cells

    Tuijnenburg, P., aan de Kerk, D. J., Jansen, M. H., Morris, B., Lieftink, C., Beijersbergen, R. L., van Leeuwen, E. M. M. & Kuijpers, T. W., 1 Jan 2020, In: European journal of immunology. 50, 1, p. 73-85 13 p.

    Research output: Contribution to journal › Article › Academic › peer-review

  6. Deconstructing B cell responses: Lessons learned from development, drugs and deficiencies

    Tuijnenburg, P., 2020, 254 p.

    Research output: PhD Thesis › Phd-Thesis - Research and graduation internal

  7. 2019

  8. A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

    Volpi, S., Cicalese, M. P., Tuijnenburg, P., Tool, A. T. J., Cuadrado, E., Abu-Halaweh, M., Ahanchian, H., Alzyoud, R., Akdemir, Z. C., Barzaghi, F., Blank, A., Boisson, B., Bottino, C., Brigida, I., Caorsi, R., Casanova, J-L., Chiesa, S., Chinn, I. K., Dückers, G., Enders, A., & 32 othersErichsen, H. C., Forbes, L. R., Gambin, T., Gattorno, M., Karimiani, E. G., Giliani, S., Gold, M. S., Jacobsen, E-M., Jansen, M. H., King, J. R., Laxer, R. M., Lupski, J. R., Mace, E., Marcenaro, S., Maroofian, R., Meijer, A. B., Niehues, T., Notarangelo, L. D., Orange, J., Pannicke, U., Pearson, C., Picco, P., Quinn, P. J., Schulz, A., Seeborg, F., Stray-Pedersen, A., Tawamie, H., van Leeuwen, E. M. M., Aiuti, A., Yeung, R., Schwarz, K. & Kuijpers, T. W., Jun 2019, In: Journal of allergy and clinical immunology. 143, 6, p. 2296-2299

    Research output: Contribution to journal › Article › Academic › peer-review

  9. Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency

    NIHR BioResource, Tuijnenburg, P., Lango Allen, H., de Bree, G. J., Savic, S., Jansen, M. H., Stockdale, C., Simeoni, I., ten Berge, I. J. M., van Leeuwen, E. M. M., Thaventhiran, J. E. & Kuijpers, T. W., 2019, In: Clinical immunology (Orlando, Fla.). 203, p. 23-27

    Research output: Contribution to journal › Article › Academic › peer-review

  10. 2018

  11. Loss of function NFKB1 variants are the most common monogenic cause of CVID in Europeans

    Tuijnenburg, P., Lango Allen, H., Burns, S. O., Greene, D., Jansen, M. H., Staples, E., Stephens, J., Carss, K. J., Biasci, D., Baxendale, H., Thomas, M., Chandra, A., Kiani-Alikhan, S., Longhurst, H. J., Seneviratne, S. L., Oksenhendler, E., Simeoni, I., de Bree, G. J., Tool, A. T. J., van Leeuwen, E. M. M., & 10 othersEbberink, E. H. T. M., Meijer, A. B., Tuna, S., Whitehorn, D., Brown, M., Turro, E., Thrasher, A. J., Smith, K. G. C., Thaventhiran, J. E. & Kuijpers, T. W., 2018, In: Journal of allergy and clinical immunology. 142, 4, p. 1285-1296

    Research output: Contribution to journal › Article › Academic › peer-review

  12. 2017

  13. Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, enteropathy, and Mild eczema Caused by a Classical FOXP3 Mutation

    Tuijnenburg, P., Cuadrado, E., Bosch, A. M., Kindermann, A., Jansen, M. H., Alders, M., van Leeuwen, E. M. M. & Kuijpers, T. W., 2017, In: Frontiers in pediatrics. 5, p. 37

    Research output: Contribution to journal › Article › Academic › peer-review

  14. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

    Oud, M. M., Tuijnenburg, P., Hempel, M., van Vlies, N., Ren, Z., Ferdinandusse, S., Jansen, M. H., Santer, R., Johannsen, J., Bacchelli, C., Alders, M., Li, R., Davies, R., Dupuis, L., Cale, C. M., Wanders, R. J. A., Pals, S. T., Ocaka, L., James, C., Müller, I., & 18 othersLehmberg, K., Strom, T., Engels, H., Williams, H. J., Beales, P., Roepman, R., Dias, P., Brunner, H. G., Cobben, J-M., Hall, C., Hartley, T., Le Quesne Stabej, P., Mendoza-Londono, R., Davies, E. G., de Sousa, S. B., Lessel, D., Arts, H. H. & Kuijpers, T. W., 2017, In: American journal of human genetics. 100, 2, p. 281-296

    Research output: Contribution to journal › Article › Academic › peer-review

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