E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1

Volume: 40, Issue: 2, Pages: 378 - 387
Published: Jan 17, 2020
Abstract
Activated PI3Kδ syndrome 1 is a primary immunodeficiency disease, usually caused by heterozygous mutations in PIK3CD. We aimed to identify the cause of homozygous mutation at c.G3061A (p.E1021K) in a patient and the effect of allele dose in this mutation. Genomic DNA from the parent-child trio was analyzed by next-generation sequencing. We performed phenotypic analyses in the patient and in Pik3cdE1024K+/+ mice. The patient was a girl harboring...
Paper Details
Title
E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1
Published Date
Jan 17, 2020
Volume
40
Issue
2
Pages
378 - 387
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