Sign Up to like & get
recommendations!
1
Published in 2020 at "Journal of Clinical Immunology"
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