Publications by authors named "Omar AbuZaitun"
Inborn errors of TLR3-dependent IFN-α/β- and IFN-λ-mediated immunity in the CNS can underlie herpes simplex virus 1 (HSV-1) encephalitis (HSE). The respective contributions of IFN-α/β and IFN-λ are unknown. We report a child homozygous for a genomic deletion of the entire coding sequence and part of the 3'-UTR of the last exon of IFNAR1, who died of HSE at the age of 2 years.
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- Primary immunodeficiencies (PIDs) are genetic disorders affecting the immune system, which can be identified using whole exome sequencing (WES).
- In a study involving 106 PID-suspected patients from a consanguineous community, WES provided a likely genetic diagnosis for 70% of the participants.
- The results also led to changes in clinical management for 39% of patients, highlighting WES as a crucial diagnostic tool for PIDs in such communities.