Article
Variants in the non-coding region of the TLR2 gene associated with infectious subphenotypes in pediatric sickle cell anemia.
Immunogenetics - 1 Jan 2018
David Susana, Aguiar Pedro, Antunes Liliana, Dias Alexandra, Morais Anabela, Sakuntabhai Anavaj, Lavinha João
Abstract excerpt
Sickle cell anemia (SCA) is characterized by chronic hemolysis, severe vasoocclusive crises (VOCs), and recurrent often severe infections. A cohort of 95 SCA pediatric patients was the background for genotype-to-phenotype association of the patient's infectious disease phenotype and three non-coding polymorphic regions of the TLR2 gene, the -196 to -174 indel, SNP rs4696480, and a (GT)n short tandem repeat. The...
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