Diagnosis of DOCK8 deficiency using Flow cytometry Biomarkers: an Egyptian Center experience.
Clin Immunol
; 195: 36-44, 2018 10.
Article
en En
| MEDLINE
| ID: mdl-30048691
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.
Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Linfocitos B
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Biomarcadores
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Linfocitos T Reguladores
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Factores de Intercambio de Guanina Nucleótido
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Células Th17
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Citometría de Flujo
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Síndrome de Job
Tipo de estudio:
Diagnostic_studies
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Etiology_studies
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Incidence_studies
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Observational_studies
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Risk_factors_studies
Límite:
Child
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Child, preschool
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Female
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Humans
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Male
País/Región como asunto:
Africa
Idioma:
En
Revista:
Clin Immunol
Asunto de la revista:
ALERGIA E IMUNOLOGIA
Año:
2018
Tipo del documento:
Article