E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1
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DOI: 10.1007/s10875-020-00749-y
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… read more here.
Keywords: mutation pik3cd; homozygous mutation; activated pi3k; e1021k homozygous ... See more keywords