A novel mutation in the Fc gamma RIIIA gene (CD16) results in active natural killer cells lacking CD16

We report a novel mutation in Fc gamma RIIIA (the transmembrane-form CD16) on natural killer (NK) cells in a patient with polyneuropathy. She had no h istory of recurrent infections, Her NK cells expressed no detectable CD16; however, her NK cytotoxic activity was normal, suggesting that CD16 express ion and cytotoxic activity are independent of one another. Molecular analys is revealed a deletion of a single adenine base in exon 4 of CD16 at nucleo tide 550, This deletion generates a STOP codon in an extra-cellular domain of the Fc gamma RIIIA gene, thereby truncating the CD16 molecule, The patie nt's NK cells were not recognized by the anti-CD16 monoclonal antibodies 3G 8 and Leu11c, Whether the development of her polyneuropathy is associated w ith this novel mutation is unclear.