Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

In an Egyptian girl born to consanguineous parents, whole-exome sequencing (WES) identified a homozygous mutation in PHGDH, c.1273G>A (p.Val425Met), indicating 3-phosphoglycerate dehydrogenase deficiency. This diagnosis was compatible with the patient’s microcephaly, severe psychomotor retard...

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Bibliographic Details
Main Authors: Maha Zaki, Michaela Thoenes, Amit Kawalia, Peter Nürnberg, Rolf Kaiser, Raoul Heller, Hanno J. Bolz
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-09-01
Series:Frontiers in Genetics
Subjects:
IFIH1
immunodeficiency
consanguinity
infection
loss-of-function
whole-exome sequencing
Online Access:http://journal.frontiersin.org/article/10.3389/fgene.2017.00130/full

Internet

http://journal.frontiersin.org/article/10.3389/fgene.2017.00130/full

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