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Article

DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome.

Clinical immunology (Orlando, Fla.) - 1 Nov 2024

Oktelik Fatma Betul, Wang Muyun, Keles Sevgi, Eke Gungor Hatice, Cansever Murat, Can Salim, Karakoc-Aydiner Elif, Baris Safa, Schmitz-Abe Klaus, Benamar Mehdi, Chatila Talal A

Abstract excerpt

Dedicator of cytokinesis 8 (DOCK8) deficiency underlies the majority of cases of patients with autosomal recessive form of the hyper-immunoglobulin E syndrome (HIES). Most DOCK8 mutations involve deletions and splice junction mutations that abrogate protein expression. However, a few patients whose presentation is reminiscent of DOCK8 deficiency have no identifiable mutations. Using Whole Exome Sequencing (WES),...

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PMID: 39437980
DOI: 10.1016/j.clim.2024.110384
PMCID: PMC11531991

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