Core 2 beta-1,6-N-acetylglucosaminyltransferase, C2GnT, is a key enzyme in O-linked oligosaccharide (O-glycan) biosynthesis and the resultant core 2 branch serves as a backbone for additional glycosylation to form oligosaccharide ligands such as sialyl Le(x). Since the expression of C2GnT is highly regulated during T-cell development and increases in pathological conditions such as the Wiskott-...

Since deleterious mutations may be rescued by secondary mutations during evolution, compensatory evolution could identify genetic solutions leading to therapeutic targets. Here, we tested this hypothesis and examined whether these solutions would be universal or would need to be adapted to one's genetic and environmental make-ups. We performed experimental evolutionary rescue in a yeast disease...

Podosomes are integrin-based adhesions fundamental for stabilisation of the leading lamellae in migrating dendritic cells (DCs) and for extracellular matrix (ECM) degradation. We have previously shown that soluble factors and chemokines such as SDF 1-a trigger podosome initiation whereas integrin ligands promote podosome maturation and stability in DCs. The exact intracellular signalling pathwa...

AIM To assess the results of supportive treatment with intravenous immunoglobulin (IVIG) and antibiotic prophylaxis in combination with splenectomy in patients with Wiskott-Aldrich syndrome. STUDY DESIGN Retrospective review of case records of 21 patients from March 1984 to February 1996. RESULTS Thrombocytopenia was cured in 14 of 15 patients who had splenectomy, but it recurred intermitte...

OBJECTIVE To determine the prevalence of atopic dermatitis and associated symptoms in schoolchildren from the city of São Paulo in 1996 and 1999. METHODS The International Study of Asthma and Allergies in Childhood (ISAAC) written questionnaire was applied to the parents of 6 to 7-year-old children in 1996 and 1999 (3,005 in 1996 and 3,033 in 1999) and to 13 to 14-year-old adolescents (3,008 ...