A case of IL-7R deficiency caused by a novel synonymous mutation and implications for mutation screening in SCID diagnosis.

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 SCID, the relevance of a non-reported synonymous variant was only suspected through the use of add...

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Main Authors: FERNANDO GALLEGO-BUSTOS, VALER GOTEA, JOSE T RAMOS-AMADOR, REBECA RODRIGUEZ-PENA, JUANA GIL, ANA SASTRE, AITOR DELMIRO, GHADI RAI, LAURA ELNITSKI, LUIS I GONZÁLEZ-GRANADO, LUIS M ALLENDE
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2016-10-01
Colecção:Frontiers in Immunology
Assuntos:
SCID
Splicing
primary immune deficiency
IL-7R
Synonymous substitutions
Acesso em linha:http://journal.frontiersin.org/Journal/10.3389/fimmu.2016.00443/full
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