Condition: BIRBECK GRANULE DEFICIENCY


rs200837270 in CD207 gene and BIRBECK GRANULE DEFICIENCY PMID 15816828 2005 A lack of Birbeck granules in Langerhans cells is associated with a naturally occurring point mutation in the human Langerin gene.

PMID 16567809 2006 Polymorphisms in human langerin affect stability and sugar binding activity.