ABSTRACT
The association of single nucleotide polymorphisms (SNPs) in the interferon (IFN)-γ gene ( IFNG ) with different types of retinal scar lesions presumably caused by toxoplasmosis were investigated in a cross-sectional population-based genetic study. Ten SNPs were investigated and after Bonferroni correction, only the associations between SNPs rs2069718 and rs3181035 with retinal/retinochoroidal scar lesions type A (most severe scar lesions) and C (least severe scar lesions), respectively, remained significant. The associations of two different IFNG SNPs with two different types of retinal lesions attributable to toxoplasmosis support the hypothesis that different inflammatory mechanisms underlie the development of these lesions. The in vitro analysis of IFN-γ secretion by peripheral blood mononuclear cells stimulated with Toxoplasma gondii antigens was also investigated. The association between SNP rs2069718 and type A scar lesions revealed that differential IFN-γ levels are correlated with distinct genotypes. However, no correlation was observed with IFN-γ secretion levels and the SNP rs3181035 , which was significantly associated with type C scar lesions. Our findings strongly suggest that immunogenetic studies of individuals with congenital or postnatally acquired infection are needed to better understand the role of IFN-γ and its polymorphisms in the pathogenesis of ocular toxoplasmosis.
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Choroid Diseases/parasitology , Cicatrix/parasitology , Interferon-gamma/genetics , Polymorphism, Single Nucleotide/genetics , Retinal Diseases/parasitology , Toxoplasmosis, Ocular/complications , Antigens, Protozoan/immunology , Cross-Sectional Studies , Genetic Association Studies , Genotype , Gene Frequency/immunology , Interferon-gamma , Leukocytes, Mononuclear/parasitology , Phenotype , Risk Factors , Severity of Illness Index , Socioeconomic Factors , Toxoplasmosis, Ocular/blood , Toxoplasmosis, Ocular/immunologyABSTRACT
Describimos el caso de una embarazada sensibilizada con un aloanticuerpo anti-Rh17 de muy amplia reactividad. Los glóbulos rojos de la paciente presentaban una deleción parcial de los antígenos del sistema Rh, responsable de la aloinmunización encontrada. Debido a la dificultad de obtener sangre compatible se elaboró un plan de transfusión autóloga para cubrir las posibles demandas. El análisis molecular del locus RH demostró la presencia de un alelo híbrido RHCE-D(5-7)-CE que generaba el fenotipo delecionado.