A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis

@inproceedings{GallegoBustos2016ACO,
  title={A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis},
  author={Fernando Gallego-Bustos and Valer Gotea and Jos{\'e} Tom{\'a}s Ramos-Amador and Rebeca Rodr{\'i}guez-Pena and Juana Gil-Herrera and Ana Sastre and Aitor Delmiro and Ghadi Rai and Laura Elnitski and Luis Ignacio Gonzalez-Granado and Luis M Allende},
  booktitle={Front. Immunol.},
  year={2016}
}
Reported synonymous substitutions are generally non-pathogenic, and rare pathogenic synonymous variants may be disregarded unless there is a high index of suspicion. In a case of IL7 receptor deficiency severe combined immunodeficiency (SCID), the relevance of a non-reported synonymous variant was only suspected through the use of additional in silico computational tools, which focused on the impact of mutations on gene splicing. The pathogenic nature of the variant was confirmed using… CONTINUE READING

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