dna sequencing sequencher heterozygous mutations

Extensive analyses revealed decreased complement activity of both classical and alternative pathway, indicating a deﬁciency of C3 or one of the factors of the terminal complement pathway. Here, we report a case of a boy that presented with arthritis and recurrent bacterial and viral infections. Deﬁciencies of the terminal complement pathway are especially associated with invasive meningococcal disease. Patients with inherited complement deﬁciencies have an increased risk of systemic bacterial infections. Box 9101, 6500 HB Nijmegen, The Netherlands e Department of Pediatrics, University Hospital Leuven, HerestrLeuven, Belgium f Division of Hygiene & Medical Microbiology, Innsbruck Medical University, 6020 Innsbruck, Austria bĪrticle history: Received 30 September 2013 Received in revised form 29 November 2013 Accepted 30 November 2013 Available online 30 December 2013 Keywords: Complement system Genetic defects Recurrent infections Subtotal C6 deﬁciencyĪ b s t r a c t The complement system plays an important role in both the innate and adaptive immune system. Box 9101, 6500 HB Nijmegen, The Netherlands d Nijmegen Institute for Infection, Immunity and Inﬂammation (HP 804), Radboud University Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands c Department of Pediatric Rheumatology (HP 804), Radboud University Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands Department of Pediatric Infectious Diseases & Immunology (HP 804), Radboud University Medical Centre, P.O. van de Kar a, Adilia Warris b,d,∗ aĭepartment of Pediatric Nephrology (HP 804), Radboud University Medical Centre, P.O. Hoppenreijs c, Michiel van der Flier b,d, Nicole C.A.J. van den Heuvel a,e, Reinhard Würzner f, Esther P.A.H. Molecular Immunology journal homepage: Compound heterozygous mutations in the C6 gene of a child with recurrent infections Dineke Westra a,1, Roel A.J. Contents lists available at ScienceDirect

Dna sequencing sequencher heterozygous mutations