Measuring Dedicator of Cytokinesis 8 (DOCK8) Expression as a Flow Cytometry Biomarker for DOCK8 Deficiency Detection
Maryam Moradi1, Mahsa Yousefpour Marzbali2, Nazanin Nazari3
1Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.. maryam.moradi1612@yahoo.com.
Iranian Journal of Allergy, Asthma, and Immunology
|November 20, 2025
Summary
Diagnosing DOCK8 deficiency, a cause of autosomal recessive hyper IgE syndrome (AR-HIES), is crucial. Flow cytometry effectively measures DOCK8 protein expression, aiding early diagnosis and management of this rare immunodeficiency.
Area of Science:
- Immunology
- Genetics
- Clinical Diagnostics
Background:
- Autosomal recessive hyperimmunoglobulin E syndrome (AR-HIES) is linked to DOCK8 gene mutations.
- It presents diverse symptoms and overlaps with other immunodeficiencies, necessitating accurate diagnosis.
- Early diagnosis is vital for managing high morbidity/mortality and considering hematopoietic stem cell transplantation (HSCT).
Purpose of the Study:
- To investigate DOCK8 protein expression in Iranian patients with suspected DOCK8 deficiency.
- To evaluate flow cytometry as a diagnostic tool for DOCK8 deficiency.
- To establish a baseline for DOCK8 expression in an Iranian cohort.
Main Methods:
- Flow cytometry was used to assess DOCK8 protein expression.
- 14 patients with clinical DOCK8 deficiency and 14 healthy controls were included.
- Genetic testing confirmed the diagnosis in patients.
Main Results:
- DOCK8 protein expression was significantly lower in patients compared to healthy controls.
- Flow cytometry demonstrated a sensitive detection range for DOCK8 deficiency.
- This method proved rapid and efficient for diagnostic purposes.
Conclusions:
- Flow cytometric evaluation of DOCK8 protein expression is a viable diagnostic method.
- This approach aids in the early and accurate diagnosis of DOCK8 deficiency.
- Timely diagnosis facilitates effective disease management and improves patient prognosis.
