Article
C5 complement deficiency in a Saudi family, molecular characterization of mutation and literature review.
Journal of clinical immunology - 1 May 2013
Arnaout Rand, Al Shorbaghi Sahar, Al Dhekri Hasan, Al-Mousa Hamoud, Al Ghonaium Abdulaziz, Al Saud Bandar, Al Muhsen Saleh, Al Baik Lina, Hawwari Abbas
Abstract excerpt
INTRODUCTION: Complement deficiencies are rare primary immunodeficiency disorders, the diagnosis of which is often underestimated. Only a small number of molecular studies have been carried out for the characterization of the underlying genetic defects in these cases. PURPOSE: Reporting the first family from the Arabian Gulf region with multiple members affected by meningococcemia and abscent serum complement 5...
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