Article
Clinical, immunological, and molecular characterization of hyper-IgM syndrome due to CD40 deficiency in eleven patients.
Journal of clinical immunology - 1 Nov 2013
Al-Saud Bandar K, Al-Sum Zobaida, Alassiri Hanadi, Al-Ghonaium Abdulaziz, Al-Muhsen Saleh, Al-Dhekri Hasan, Arnaout Rand, Alsmadi Osama, Borrero Esteban, Abu-Staiteh Asm'a, Rawas Faisal, Al-Mousa Hamoud, Hawwari Abbas
Abstract excerpt
PURPOSE: Hyper-IgM syndrome due to CD40 deficiency (HIGM3) is a rare form of primary immunodeficiency with few reported cases. In this study, we further characterize the clinical, immunological, and molecular profiles of the disease in a cohort of 11 patients. METHODS: Molecular genetic analysis and a comprehensive clinical review of patients diagnosed with HIGM3 at our tertiary care center from 1994 to 2011 were...
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