Author Interviews, Dengue, Ebola, Genetic Research, Infections, NEJM, NIH / 24.04.2014
Rare Childhood Disorder Enhances Understanding of Resistance to Viral Infections
MedicalResearch.com Interview with:
Sergio D. Rosenzweig, MD, PhD
Director, Primary Immunodeficiency Clinic (PID-C)
Head of the Infectious Diseases Susceptibility Unit at the Laboratory of Host Defenses, National Institutes of Allergy and Infectious Diseases National Institutes of Health
Bethesda, MD, 20892
MedicalResearch.com: What are the main findings of the study?
Dr. Rosenzweig: We diagnosed a disease called CDG-IIb in two siblings with severe development issues and very low levels of immunoglobulins, which include infection-fighting antibodies. These children were referred to the NIAID Primary Immunodeficiency Clinic through the NIH Undiagnosed Diseases Program. CDG-IIb is an extremely rare congenital disorder of glycosylation (CDG), with only one other case reported. The genetic defect of the disease disrupts glycosylation, the process for attaching and trimming sugars from proteins. Almost 50% of our proteins have sugars attached, and these are called glycoproteins. They include immunoglobulins and also some viral glycoproteins that are made when cells are infected by a virus. The spread of some viruses, including HIV and influenza, depend on viral glycoproteins in order to infect additional cells and form viral protective shields. We found that this type of virus was less able to replicate, infect other cells, or create adequate protective shields in CDG-IIb patient cells because of the glycosylation defect. In comparison, adenovirus, poliovirus, and vaccinia virus, which either do not rely on glycosylation or do not form protective glycoprotein shields, replicated normally when added to both CDG-IIb and healthy cells.
(more…)