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Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients.
de Vor IC, van der Meulen PM, Bekker V, Verhard EM, Breuning MH, Harnisch E, van Tol MJ, Wieringa JW, van de Vosse E, Bredius RG. de Vor IC, et al. Among authors: van der meulen pm, van tol mj, van de vosse e. J Clin Immunol. 2016 Apr;36(3):195-203. doi: 10.1007/s10875-016-0244-y. Epub 2016 Mar 1. J Clin Immunol. 2016. PMID: 26931784 Free PMC article.
Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor beta1 deficient patients and evidence for the existence of partial IL-12 receptor beta1 deficiency.
Lichtenauer-Kaligis EG, de Boer T, Verreck FA, van Voorden S, Hoeve MA, van de Vosse E, Ersoy F, Tezcan I, van Dissel JT, Sanal O, Ottenhoff TH. Lichtenauer-Kaligis EG, et al. Among authors: van voorden s, van dissel jt, van de vosse e, de boer t. Eur J Immunol. 2003 Jan;33(1):59-69. doi: 10.1002/immu.200390008. Eur J Immunol. 2003. PMID: 12594833 Free article.
Antisense-mediated exon skipping to correct IL-12Rbeta1 deficiency in T cells.
van de Vosse E, Verhard EM, de Paus RA, Platenburg GJ, van Deutekom JC, Aartsma-Rus A, van Dissel JT. van de Vosse E, et al. Among authors: van dissel jt, de paus ra, van deutekom jc. Blood. 2009 May 7;113(19):4548-55. doi: 10.1182/blood-2008-12-196220. Epub 2009 Mar 3. Blood. 2009. PMID: 19258592 Free article.
100 results