Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Yanick J. Crow, Diana S. Chase, Johanna Lowenstein Schmidt, Marcin Szynkiewicz, Gabriella M.A. Forte, Hannah L. Gornall, Anthony Oojageer, Beverley Anderson, Amy Pizzino, Guy Helman, Mohamed S. Abdel-Hamid, Ghada M. Abdel-Salam, Sam Ackroyd, Alec Aeby....
American Journal of Medical Genetics
Frank Rutsch, Mary MacDougall, Changming Lu, Insa Buers, Olga Mamaeva, Yvonne Nitschke, Gillian I. Rice, Heidi Erlandsen, Hans Gerd Kehl, Holger Thiele, Peter Nürnberg, Wolfgang Höhne, Yanick J. Crow, Annette Feigenbaum, Raoul C. Hennekam
The American Society of Human Genetics
Mary A. Slatter, Karin R. Engelhardt, Lauri M. Burroughs, Peter D. Arkwright, Zohreh Nademi, Suzanne Skoda-Smith, David Hagin, Alan Kennedy, Dawn Barge, Terence Flood, Mario Abinun, Robert F. Wynn, Andrew R. Gennery, Andrew J. Cant, David Sansom, ...
The Journal of Allergy and Clinical Immunology
Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells
Mirzokhid Rakhmanov, Baerbel Keller, Sylvia Gutenberger, Christian Foerster, Manfred Hoenig, Gertjan Driessen, Mirjam van der Burg, Jacques J. van Dongen, Elisabeth Wiech, Marcella Visentinif Isabella Quinti, Antje Prasseg Nadine Voelxen, Ulrich Salzer,..
Procedings of the National Academy of Sciences of the United Sates of America
Padmini S. Pillai, Ryan D. Molony, Kimberly Martinod, Huiping Dong, Iris K. Pang, Michal C. Tal, Angel G. Solis, Piotr Bielecki, Subhasis Mohanty, Mark Trentalange, Robert J. Homer, Richard A. Flavell, Denisa D. Wagner, Ruth R. Montgomery, Albert C. Shaw
Science
Francisco A. Bonilla, PhDa, Isil Barlanb, Helen Chapelc, Beatriz T. Costa-Carvalhod, Charlotte Cunningham-Rundles, M. Teresa de la Morenaf, Francisco J. Espinosa-Rosalesg, Lennart Hammarström, PhDh, Shigeaki Nonoyama,
The Journal of Allergy and Clinical Immunology: In Practice
Michael J. Ciancanelli, Sarah X. L. Huang, Priya Luthra, Hannah Garner, Yuval Itan, Stefano Volpi, Fabien G. Lafaille, Céline Trouillet5 Mirco Schmolke, Randy A. Albrecht, Elisabeth Israelsson, Hye Kyung Lim, Melina Casadio, Tamar Hermesh, ...
Science
Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.
Davila S, Wright VJ, Khor CC, Sim KS, Binder A, Breunis WB, Inwald D, Nadel S, Betts H, Carrol ED, de Groot R, Hermans PW, Hazelzet J, Emonts M, Lim CC, Kuijpers TW, Martinon-Torres F, Salas A, Zenz W, Levin M, Hibberd ML
Nature Genetics
Kuijpers TW, Baars PA, aan de Kerk DJ, Jansen MH, Dors N, van Lier RA, Pals ST
J Allergy Clin Immunol. 2011 Jun;127(6)
A novel mutation in CD132 causes X-CID with defective T-cell activation and impaired humoral reactivity.
Kuijpers TW, Baars PA, Aan de Kerk DJ, Jansen MH, Derks IA, Bredius RG, Sanders EA, van der Burg M, Alders M, van Lier RA
J Allergy Clin Immunol. 2011 Dec;128(6):1360-1363
Drewniak A, Gazendam RP, Tool AT, van Houdt M, Jansen MH, van Hamme JL, van Leeuwen EM, Roos D, Scalais E, de Beaufort C, Janssen H, van den Berg TK, Kuijpers TW
Blood. 2013 Mar 28;121(13):2385-92
van de Vijver E, van den Berg TK, Kuijpers TW
Hematol Oncol Clin North Am. 2013 Feb;27(1):101-16, viii
A novel splice variant of FcγRIIa: a risk factor for anaphylaxis in patients with hypogammaglobulinemia
van der Heijden J, Geissler J, van Mirre E, van Deuren M, van der Meer JW, Salama A, van den Berg TK, Roos D, Kuijpers TW
9. J Allergy Clin Immunol. 2013 May;131(5):1408-16
Identification of B cell defects using age-defined reference ranges for in vivo and in vitro B cell differentiation.
aan de Kerk DJ, Jansen MH, ten Berge IJ, van Leeuwen EM, Kuijpers TW.
J Immunol. 2013 May 15;190(10):5012-9. doi: 10.4049/jimmunol.1201807. Epub 2013 Apr 12.
Sillevis Smitt JH, Kuijpers TW.
Curr Opin Pediatr. 2013 Aug;25(4):492-7.
Aberrant humoral immune reactivity in DOCK8 deficiency with follicular hyperplasia and nodal plasmacytosis.
aan de Kerk DJ, van Leeuwen EM, Jansen MH, van den Berg JM, Alders M, Vermont CL, van Lier RA, Pals ST, Kuijpers TW.
Clin Immunol. 2013 Oct;149(1):25-31. doi: 10.1016/j.clim.2013.06.002. Epub 2013 Jun 19
Cuadrado E, Vanderver A, Brown KJ, Sandza A, Takanohashi A, Jansen MH, Anink J, Herron B, Orcesi S, Olivieri I, Rice GI, Aronica E, Lebon P, Crow YJ, Hol EM, Kuijpers TW
Ann Rheum Dis. 2014 Jun 6. pii: annrheumdis-2014-205396. doi: 10.1136/annrheumdis-2014-205396. [Epub ahead of print]
Two independent killing mechanisms of Candida albicans by human neutrophils: evidence from innate immunity defects.
Gazendam RP, van Hamme JL, Tool AT, van Houdt M, Verkuijlen PJ, Herbst M, Liese JG, van de Veerdonk FL, Roos D, van den Berg TK, Kuijpers TW
Blood. 2014 Jul 24;124(4):590-7. doi: 10.1182/blood-2014-01-551473. Epub 2014 Jun 19.
Inhibition of FcγR-mediated phagocytosis by IVIg is independent of IgG-Fc sialylation and FcγRIIb in human macrophages.
Nagelkerke SQ, Dekkers G, Kustiawan I, van de Bovenkamp FS, Geissler J, Plomp R, Wuhrer M, Vidarsson G, Rispens T, van den Berg TK, Kuijpers TW
Blood. 2014 Dec 11;124(25):3709-18. doi: 10.1182/blood-2014-05-576835. Epub 2014 Oct 28.
Pouw RB, Vredevoogd DW, Kuijpers TW, Wouters D
Mol Immunol. 2015 Mar 27. pii: S0161-5890(15)00115-7. doi: 10.1016/j.molimm.2015.03.011. [Epub ahead of print]
Deep sequencing of antiviral T-cell responses to HCMV and EBV in humans reveals a stable repertoire that is maintained for many years
Klarenbeek PL, Remmerswaal EB, ten Berge IJ, Doorenspleet ME, van Schaik BD, Esveldt RE, Koch SD, ten Brinke A, van Kampen AH, Bemelman FJ, Tak PP, Baas F, de Vries N, van Lier RA
PLoS Pathog. 2012 Sep;8(9)
Primary immunodeficiencies in the Netherlands: national patient data demonstrate the increased risk of malignancy
Jonkman-Berk BM, van den Berg JM, Ten Berge IJ, Bredius RG, Driessen GJ, Dalm VA, van Dissel JT, van Deuren M, Ellerbroek PM, van der Flier M, van Hagen PM, van Montfrans JM, Rutgers A, Schölvinck EH, de Vries E, van Beem RT, Kuijpers TW
Clin Immunol. 2015 Feb;156(2):154-62
Incidence of invasive group B streptococcal disease and pathogen genotype distribution in newborn babies in the Netherlands over 25 years: a nationwide surveillance study.
Bekker V, Bijlsma MW, van de Beek D, Kuijpers TW, van der Ende A
Lancet Infect Dis. 2014 Nov;14(11):1083-9
Remmerswaal EB, Havenith SH, Idu MM, van Leeuwen EM, van Donselaar KA, Ten Brinke A, van der Bom-Baylon N, Bemelman FJ, van Lier RA, Ten Berge IJ
Blood. 2012 Feb 16;119(7):1702-12
Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening
de Pagter AP, Bredius RG, Kuijpers TW, Tramper J, van der Burg M, van Montfrans J, Driessen GJ; Dutch Working Party for Immunodeficiencies
Eur J Pediatr. 2015 Apr 1
Späth PJ, Granata G, La Marra F, Kuijpers TW, Quinti I
Front Immunol. 2015 Feb 5;6:11
Kerr J, Quinti I, Eibl M, Chapel H, Späth PJ, Sewell WA, Salama A, van Schaik IN, Kuijpers TW, Peter HH
Front Immunol. 2014 Dec 12;5:629
Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations
Kuijpers TW, Ijspeert H, van Leeuwen EM, Jansen MH, Hazenberg MD, Weijer KC, van Lier RA, van der Burg M.
Blood. 2011 Jun 2;117(22):5892-6.
Immunomodulation by IVIg and the Role of Fc-Gamma Receptors: Classic Mechanisms of Action after all?
Nagelkerke SQ, Kuijpers TW
Front Immunol. 2015 Jan 21;5:674. doi: 10.3389/fimmu.2014.00674. eCollection 2014
Rhizopus oryzae skin infection treated with posaconazole in a boy with chronic granulomatous disease
Wildenbeest JG, Oomen MW, Brüggemann RJ, de Boer M, Bijleveld Y, van den Berg JM, Kuijpers TW, Pajkrt D
Pediatr Infect Dis J. 2010 Jun;29(6):578
Primary immunodeficiencies in the Netherlands: national patient data demonstrate the increased risk of malignancy
Jonkman-Berk BM, van den Berg JM, Ten Berge IJ, Bredius RG, Driessen GJ, Dalm VA, van Dissel JT, van Deuren M, Ellerbroek PM, van der Flier M, van Hagen PM, van Montfrans JM, Rutgers A, Schölvinck EH, de Vries E, van Beem RT, Kuijpers TW
Clin Immunol. 2015 Feb;156(2)
Feigenbaum A, Müller C, Yale C, Kleinheinz J, Jezewski P, Kehl HG, MacDougall M, Rutsch F, Hennekam RC
Am J Med Genet A. 2013 Feb;161A(2):360-70
Kuijpers TW, Bende RJ, Baars PA, Grummels A, Derks IA, Dolman KM, Beaumont T, Tedder TF, van Noesel CJ, Eldering E, van Lier RA
J Clin Invest. 2010 Jan;120(1):214-22
The costimulatory molecule CD27 maintains clonally diverse CD8(+) T cell responses of low antigen affinity to protect against viral variants
van Gisbergen KP, Klarenbeek PL, Kragten NA, Unger PP, Nieuwenhuis MB, Wensveen FM, ten Brinke A, Tak PP, Eldering E, Nolte MA, van Lier RA
Immunity. 2011 Jul 22;35(1):97-108
Chaigne-Delalande B, Li FY, O'Connor GM, Lukacs MJ, Jiang P, Zheng L, Shatzer A, Biancalana M, Pittaluga S, Matthews HF, Jancel TJ, Bleesing JJ, Marsh RA, Kuijpers TW, Nichols KE, Lucas CL, Nagpal S, Mehmet H, Su HC, Cohen JI, Uzel G, Lenardo MJ
Science. 2013 Jul 12;341(6142):186-91
Educational paper: Defects in number and function of neutrophilic granulocytes causing primary immunodeficiency
van den Berg JM, Kuijpers TW
Eur J Pediatr. 2011 Nov;170(11):1369-76
Hertoghs KM, Moerland PD, van Stijn A, Remmerswaal EB, Yong SL, van de Berg PJ, van Ham SM, Baas F, ten Berge IJ, van Lier RA
J Clin Invest. 2010 Nov;120(11):4077-90
van de Berg PJ, van Leeuwen EM, ten Berge IJ, van Lier R
Curr Opin Immunol. 2008 Jun;20(3):339-43
Pascutti MF, Geerman S, Slot E, van Gisbergen KP, Boon L, Arens R, van Lier RA, Wolkers MC, Nolte MA
PLoS Pathog. 2015 Mar 4;11(3)
A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells.
Kuijpers TW, van Leeuwen EM, Barendregt BH, Klarenbeek P, aan de Kerk DJ, Baars PA, Jansen MH, de Vries N, van Lier RA, van der Burg M
Haematologica. 2013 Jul;98(7):1030-8
Mouse Hobit is a homolog of the transcriptional repressor Blimp-1 that regulates NKT cell effector differentiation
van Gisbergen KP, Kragten NA, Hertoghs KM, Wensveen FM, Jonjic S, Hamann J, Nolte MA, van Lier RA
Nat Immunol. 2012 Sep;13(9):864-71
BH3-only protein Noxa regulates apoptosis in activated B cells and controls high-affinity antibody formation
Wensveen FM, Derks IA, van Gisbergen KP, de Bruin AM, Meijers JC, Yigittop H, Nolte MA, Eldering E, van Lier RA
Blood. 2012 Feb 9;119(6):1440-9
Incidence of invasive group B streptococcal disease and pathogen genotype distribution in newborn babies in the Netherlands over 25 years: a nationwide surveillance study
Bekker V, Bijlsma MW, van de Beek D, Kuijpers TW, van der Ende A
Lancet Infect Dis. 2014 Nov;14(11):1083-9