RESUMEN
The aim of this study has been to assess the clinical presentation and biochemical profile of lipoid proteinosis within a defined pedigree. Glycoprotein analysis was compared to normal values in an attempt to define a biochemical phenotype. Six affected family members were identified with variable degrees of disease expression. The most likely mode of inheritance is autosomal recessive due to consanguinity. Routine laboratory investigations were normal in all family members tested. The total content of mucopolysaccharides, sialic acid and hexosamine in biopsed tissue was significantly lower than normal. Our findings demonstrate that a defect in glycoprotein synthesis, possibly enzymatic, may be the cause of lipid proteinosis and its protean clinical manifestations.
Asunto(s)
Glicosaminoglicanos/metabolismo , Hexosaminas/metabolismo , Proteinosis Lipoidea de Urbach y Wiethe/genética , Ácidos Siálicos/metabolismo , Adulto , Anciano , Biomarcadores , Femenino , Humanos , Proteinosis Lipoidea de Urbach y Wiethe/metabolismo , Proteinosis Lipoidea de Urbach y Wiethe/patología , Masculino , Persona de Mediana Edad , Linaje , FenotipoRESUMEN
A peripheral leukocyte migration inhibition test has been used to demonstrate cellular immunity to a protein component of Neisseria gonorrhoeae. Human leukocytes served as effector cells in an agarose method to distinguish antigen-sensitive from nonsensitive individuals. Leukocytes, preincubated with antigen, were placed in wells in medium 199 agarose. After 18 h of incubation the migration index was calculated by dividing the area of migration of cells preincubated with antigen by the area of migration of the control cells. Significant migration inhibition was demonstrated for 16 of the 30 patients with uncomplicated gonorrhoea. Maximum inhibition was obtained 7-10 days following the onset of symptoms and the duration of the response varied from 14 to more than 40 days. There was a statistically significant positive correlation between the number of previous infections and migration inhibition. A control group, which included individuals with Neisseria meningitidis infection, showed an insignificant response to this gonococcal antigen. Although these results indicate the presence of cell-mediated immunity, the significance of this response in the protection of the host or in the pathogenesis of gonococcal disease has yet to be determined.
Asunto(s)
Gonorrea/inmunología , Inmunidad Celular , Adolescente , Adulto , Anticuerpos Antibacterianos/biosíntesis , Proteínas Bacterianas/inmunología , Inhibición de Migración Celular , Femenino , Fimbrias Bacterianas/inmunología , Humanos , Leucocitos/inmunología , Masculino , Neisseria gonorrhoeae/inmunologíaRESUMEN
This paper describes studies based on the hypothesis that the immunogenicity of the gonococcus is impaired by a component toxic to immunocytes. Cytoplasm of colony type 1 gonococci was found to contain a protein fraction beta+t not present in colony type 4 gonococci. From the results of further analysis it is tentatively deduced that beta+t consists of a toxic component Tbeta-t and an immunogen.