Diagnosis of DOCK8 deficiency using Flow cytometry Biomarkers: an Egyptian Center experience.

Autor: Meshaal SS; Clinical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt. Electronic address: safa.meshaal@kasralainy.edu.eg., El Hawary RE; Clinical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Eldash A; Clinical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Grimbacher B; Center for Chronic Immunodeficiency, University Hospital, Medical Faculty, Albert-Ludwigs University, Freiburg, Germany; Department of Immunology, Royal Free Hospital, University College London, London, UK., Camacho-Ordonez N; Center for Chronic Immunodeficiency, University Hospital, Medical Faculty, Albert-Ludwigs University, Freiburg, Germany., Abd Elaziz DS; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Galal NM; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Boutros JA; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Shawky SM; Clinical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Elmarsafy AM; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Jazyk: angličtina
Zdroj: Clinical immunology (Orlando, Fla.) [Clin Immunol] 2018 Oct; Vol. 195, pp. 36-44. Date of Electronic Publication: 2018 Jul 24.
DOI: 10.1016/j.clim.2018.07.011
Abstrakt: 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.)
Databáze: MEDLINE
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