1. Diagnosis of DOCK8 deficiency using Flow cytometry Biomarkers: an Egyptian Center experience.
- Author
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Meshaal SS, El Hawary RE, Eldash A, Grimbacher B, Camacho-Ordonez N, Abd Elaziz DS, Galal NM, Boutros JA, Shawky SM, and Elmarsafy AM
- Subjects
- Cell Differentiation, Child, Child, Preschool, Cohort Studies, Egypt, Female, Guanine Nucleotide Exchange Factors genetics, Humans, Immunologic Memory, Male, Phosphorylation genetics, STAT3 Transcription Factor metabolism, Sequence Deletion genetics, Signal Transduction, B-Lymphocytes immunology, Biomarkers metabolism, Flow Cytometry methods, Guanine Nucleotide Exchange Factors metabolism, Job Syndrome diagnosis, T-Lymphocytes, Regulatory immunology, Th17 Cells immunology
- Abstract
In the past few years, several genes were shown to be implicated in various forms of the Hyper Immunoglobulin E syndrome. The present study is the first to describe a cohort of DOCK8 deficiency patients from Egypt. The study included 15 patients with features of combined immunodeficiency (CID) suggestive of DOCK8 deficiency. Flow cytometry was used for evaluation of DOCK8 expression and studying different immunological characteristics of those patients including evaluation of Th17, Tregs, T and B lymphocytes differentiation and the effect of the DOCK8 deficiency on the activation of the STAT3. Diagnosis was confirmed by mutational analysis. Profound defects in Th17 cells and Tregs were observed in all patients with impaired STAT3 phosphorylation, indicating that DOCK8 plays a pivotal role in the STAT3 signaling pathway. These findings together with decrease in memory B cells and defective DOCK8 expression by flow cytometry can confirm the diagnosis., (Copyright © 2018 Elsevier Inc. All rights reserved.)
- Published
- 2018
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