A novel mutation in the FcgammaRIIIA gene (CD16) results in active natural killer cells lacking CD16 |
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Authors: | Takeuchi T Nakagawa T Ikemoto T Sasaki M Makino S Shimizu A Ohsawa N |
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Affiliation: | First Department of the Internal Medicine, Osaka Medical College, Takatsuki, Japan. in1044@poh.osaka-med.ac.jp |
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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. |
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