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- W3000150282 endingPage "637" @default.
- W3000150282 startingPage "629" @default.
- W3000150282 abstract "Abstract Natural killer cell deficiencies (NKDs) are an emerging phenotypic subtype of primary immune deficiency. NK cells provide a defense against virally infected cells using a variety of cytotoxic mechanisms, and patients who have defective NK cell development or function can present with atypical, recurrent, or severe herpesviral infections. The current pipeline for investigating NKDs involves the acquisition and clinical assessment of patients with a suspected NKD followed by subsequent in silico, in vitro, and in vivo laboratory research. Evaluation involves initially quantifying NK cells and measuring NK cell cytotoxicity and expression of certain NK cell receptors involved in NK cell development and function. Subsequent studies using genomic methods to identify the potential causative variant are conducted along with variant impact testing to make genotype-phenotype connections. Identification of novel genes contributing to the NKD phenotype can also be facilitated by applying the expanding knowledge of NK cell biology. In this review, we discuss how NKDs that affect NK cell cytotoxicity can be approached in the clinic and laboratory for the discovery of novel gene variants." @default.
- W3000150282 created "2020-01-23" @default.
- W3000150282 creator A5016163533 @default.
- W3000150282 creator A5039963204 @default.
- W3000150282 creator A5069051471 @default.
- W3000150282 date "2020-02-27" @default.
- W3000150282 modified "2023-10-02" @default.
- W3000150282 title "A research-driven approach to the identification of novel natural killer cell deficiencies affecting cytotoxic function" @default.
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