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Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency.
Kuijpers TW, Tool ATJ, van der Bijl I, de Boer M, van Houdt M, de Cuyper IM, Roos D, van Alphen F, van Leeuwen K, Cambridge EL, Arends MJ, Dougan G, Clare S, Ramirez-Solis R, Pals ST, Adams DJ, Meijer AB, van den Berg TK. Kuijpers TW, et al. Among authors: van leeuwen k, van der bijl i, van houdt m, van den berg tk, van alphen f. J Allergy Clin Immunol. 2017 Jul;140(1):273-277.e10. doi: 10.1016/j.jaci.2016.09.061. Epub 2016 Dec 10. J Allergy Clin Immunol. 2017. PMID: 27965109 No abstract available.
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
Roos D, Kuhns DB, Maddalena A, Bustamante J, Kannengiesser C, de Boer M, van Leeuwen K, Köker MY, Wolach B, Roesler J, Malech HL, Holland SM, Gallin JI, Stasia MJ. Roos D, et al. Among authors: van leeuwen k. Blood Cells Mol Dis. 2010 Apr 15;44(4):291-9. doi: 10.1016/j.bcmd.2010.01.009. Epub 2010 Feb 18. Blood Cells Mol Dis. 2010. PMID: 20167518 Free PMC article. Review.
Hematologically important mutations: X-linked chronic granulomatous disease (third update).
Roos D, Kuhns DB, Maddalena A, Roesler J, Lopez JA, Ariga T, Avcin T, de Boer M, Bustamante J, Condino-Neto A, Di Matteo G, He J, Hill HR, Holland SM, Kannengiesser C, Köker MY, Kondratenko I, van Leeuwen K, Malech HL, Marodi L, Nunoi H, Stasia MJ, Ventura AM, Witwer CT, Wolach B, Gallin JI. Roos D, et al. Among authors: van leeuwen k. Blood Cells Mol Dis. 2010 Oct 15;45(3):246-65. doi: 10.1016/j.bcmd.2010.07.012. Epub 2010 Aug 21. Blood Cells Mol Dis. 2010. PMID: 20729109 Free PMC article. Review.
Hematologically important mutations: leukocyte adhesion deficiency (first update).
van de Vijver E, Maddalena A, Sanal Ö, Holland SM, Uzel G, Madkaikar M, de Boer M, van Leeuwen K, Köker MY, Parvaneh N, Fischer A, Law SK, Klein N, Tezcan FI, Unal E, Patiroglu T, Belohradsky BH, Schwartz K, Somech R, Kuijpers TW, Roos D. van de Vijver E, et al. Among authors: van leeuwen k. Blood Cells Mol Dis. 2012 Jan 15;48(1):53-61. doi: 10.1016/j.bcmd.2011.10.004. Epub 2011 Nov 30. Blood Cells Mol Dis. 2012. PMID: 22134107 Free PMC article. Review.
Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families.
Stasia MJ, van Leeuwen K, de Boer M, Martel C, Mollin M, Thuret I, Michel G, Hanson C, Augustine NH, Coutton C, Satre V, Wittwer CT, Hill H, Roos D. Stasia MJ, et al. Among authors: van leeuwen k. J Clin Immunol. 2012 Aug;32(4):653-62. doi: 10.1007/s10875-012-9667-2. Epub 2012 Mar 2. J Clin Immunol. 2012. PMID: 22382877
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.
Köker MY, Camcıoğlu Y, van Leeuwen K, Kılıç SŞ, Barlan I, Yılmaz M, Metin A, de Boer M, Avcılar H, Patıroğlu T, Yıldıran A, Yeğin O, Tezcan I, Sanal Ö, Roos D. Köker MY, et al. Among authors: van leeuwen k. J Allergy Clin Immunol. 2013 Nov;132(5):1156-1163.e5. doi: 10.1016/j.jaci.2013.05.039. Epub 2013 Jul 31. J Allergy Clin Immunol. 2013. PMID: 23910690
266 results