title: A novel mutation in the FcgammaRIIIA gene (CD16) results in active natural killer cells lacking CD16.
abstract: We report a novel mutation in FcgammaRIIIA (the transmembrane-form CD16) on natural killer (NK) cells in a patient with polyneuropathy. She had no history of recurrent infections. Her NK cells expressed no detectable CD16; however, her NK cytotoxic activity was normal, suggesting that CD16 expression and cytotoxic activity are independent of one another. Molecular analysis revealed a deletion of a single adenine base in exon 4 of CD16 at nucleotide 550. This deletion generates a STOP codon in an extra-cellular domain of the FcgammaRIIIA gene, thereby truncating the CD16 molecule. The patient's NK cells were not recognized by the anti-CD16 monoclonal antibodies 3G8 and Leu11c. Whether the development of her polyneuropathy is associated with this novel mutation is unclear.
authors.affiliation: First Department of the Internal Medicine, Osaka Medical College, Takatsuki, Japan. in1044@poh.osaka-med.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Takeuchi
authors.forename: T
authors.initials: T
authors.lastname: Nakagawa
authors.forename: T
authors.initials: T
authors.lastname: Ikemoto
authors.forename: M
authors.initials: M
authors.lastname: Sasaki
authors.forename: S
authors.initials: S
authors.lastname: Makino
authors.forename: A
authors.initials: A
authors.lastname: Shimizu
authors.forename: N
authors.initials: N
authors.lastname: Ohsawa
mesh_terms: D000328:Adult; D001483:Base Sequence; D003602:Cytotoxicity, Immunologic; D005260:Female; D006801:Humans; D007694:Killer Cells, Natural / Q000276:immunology*; D008969:Molecular Sequence Data; D009154:Mutation; D011115:Polyneuropathies / Q000235:genetics*; D017452:Receptors, IgG / Q000235:genetics*
chemical_list: D017452:Receptors, IgG