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...
Main Authors: | , , , , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2016-10-01
|
Series: | Frontiers in Immunology |
Subjects: | |
Online Access: | http://journal.frontiersin.org/Journal/10.3389/fimmu.2016.00443/full |