A lack of Birbeck granules in Langerhans cells is associated with a naturally occurring point mutation in the human Langerin gene

Verdijk P, Dijkman R, Plasmeijer EI, Mulder AA, Zoutman WH, Mieke Mommaas A, Tensen CP
Source: J Invest Dermatol
Publication Date: (2005)
Issue: 124(4): 714-717
Research Area:
Dermatology/Tissue Engineering
Cells used in publication:
Fibroblast, dermal (NHDF-Neo), human neonatal
Species: human
Tissue Origin: dermal
Fibroblast, dermal(NHDF-Ad), human adult
Species: human
Tissue Origin: dermal
Nucleofector® I/II/2b
A heterozygous mutation in the Langerin gene corresponding to position 837 in the Langerin mRNA was identified in a person deficient in Birbeck granules (BG). This mutation results in an amino acid replacement of tryptophan by arginine at position 264 in the carbohydrate recognition domain of the Langerine protein. Expression of mutated Langerin in human fibroblasts induces tubular-like structures that are negative for BG-specific antibodies and do not resemble the characteristic structural features of BG.