Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/24531
Title: A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis.
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Issue Date: 2016
Citation: Front Immunol.2016;(7):443
Abstract: 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 experimental validation of the effect on mRNA splicing and IL7 pathway function. This case reinforces the need to use additional experimental methods to establish the functional impact of specific mutations, in particular for cases such as SCID where prompt diagnosis can greatly impact on diagnosis, treatment, and survival.
PMID: 27833609
URI: https://hdl.handle.net/20.500.12530/24531
Rights: openAccess
ISSN: 1664-3224
Appears in Collections:Fundaciones e Institutos de Investigación > IIS H. General U. Gregorio Marañón > Artículos
Hospitales > H. U. 12 de Octubre > Artículos
Fundaciones e Institutos de Investigación > IIS H. U. 12 de Octubre > Artículos
Fundaciones e Institutos de Investigación > IIS H. U. La Paz > Artículos
Hospitales > H. U. La Paz > Artículos

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