What question did this study set out to answer?

To characterize diverse PRF1 mutations that decrease natural killer cell activity and evaluate their pathogenicity in families with haemophagocytic lymphohistiocytosis.

February 1, 2004Journal of Medical GeneticsOpen Access

Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis

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Authors

SLS Molleran LeeCincinnati Children's Hospital Medical Center

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Implication

Genetic analysis reveals inconclusive pathogenicity for PRF1 A91V and N252S variants in familial haemophagocytic lymphohistiocytosis, highlighting complex genotype-phenotype relationships.

Key Points

To characterize diverse PRF1 mutations that decrease natural killer cell activity and evaluate their pathogenicity in families with haemophagocytic lymphohistiocytosis.
Sequenced and analyzed PRF1 variants in families diagnosed with haemophagocytic lymphohistiocytosis.
Assessed natural killer cell cytotoxicity and investigated the pathogenicity of specific variants, including A91V and N252S.
Diverse PRF1 mutations were identified that correlate with diminished natural killer cell activity.
Pathogenicity for two previously described PRF1 mutations, A91V and N252S, could not be conclusively confirmed in the studied cohort.

Cite This Study

S Molleran Lee (2004) studied this question.

synapsesocial.com/papers/6a7d83ab9c5f03601cb868cf https://doi.org/10.1136/jmg.2003.011528

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Implication

Genetic analysis reveals inconclusive pathogenicity for PRF1 A91V and N252S variants in familial haemophagocytic lymphohistiocytosis, highlighting complex genotype-phenotype relationships.

Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis

Discussion

Member takes

Implication

Key Points

Cite This Study

Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis

Discussion

Member takes

Implication

Key Points

Cite This Study

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