Identification of a novel non-coding mutation in C1qB in a Dutch child with C1q deficiency associated with recurrent infections.

Autor: van Schaarenburg RA; Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands., Daha NA; Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands., Schonkeren JJ; Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands., Nivine Levarht EW; Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands., van Gijlswijk-Janssen DJ; Department of Nephrology, Leiden University Medical Center, Leiden, The Netherlands., Kurreeman FA; Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands., Roos A; Department of Clinical Chemistry, Leiden University Medical Center, Leiden, The Netherlands; Department of Medical Microbiology and Immunology, St Antonius Hospital, Nieuwegein, The Netherlands., van Kooten C; Department of Nephrology, Leiden University Medical Center, Leiden, The Netherlands., Koelman CA; Meander Medical Center, Amersfoort, The Netherlands., Ernst-Kruis MR; Meander Medical Center, Amersfoort, The Netherlands., Toes RE; Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands., Huizinga TW; Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands., Lankester AC; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands., Trouw LA; Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: L.A.Trouw@lumc.nl.

Publikováno v: Immunobiology [Immunobiology] 2015 Mar; Vol. 220 (3), pp. 422-7. Date of Electronic Publication: 2014 Oct 18.