A novel mutation in the FcgammaRIIIA gene (CD16) results in active natural killer cells lacking CD16.
Autoimmunity
; 31(4): 265-71, 1999.
Article
em En
| MEDLINE
| ID: mdl-10789992
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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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Polineuropatias
/
Células Matadoras Naturais
/
Receptores de IgG
/
Mutação
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Autoimmunity
Ano de publicação:
1999
Tipo de documento:
Article