European Journal of Biomedical and Pharmaceutical Sciences

APPLICATION OF EIGHT- COLOR FLOW CYTOMETRY IN THE EVALUATION OF PRIMARY IMMUNE DEFICIENCIES: EXPERIENCE FROM KING HUSSEIN MEDICAL CENTER

Nabeeha Abbasi MD*, Bayan Alzghoul MD, Lamees Abasi MD, Mohammad Al maaita MD, Malak AL-Awamleh MT, Mai Almasaeed MD, Abdulla Al Zreiqat MD, Amjad Alhawamdeh MD, Raida Oudat MD, Maha Al-Amer MD

ABSTRACT

Background: Primary Immunodeficiency diseases comprise a clinically and immunologically heterogeneous group of immune system disorders. Diagnosis of these disorders is supported by the use of flow cytometry which provides a rapid, sensitive and cost effective results. Aim: To focus on the significant applications of flow cytometry in the evaluation of Primary Immune Deficiencies. Materials and Methods: We revised flow cytometry analysis of 192 patients who were referred to the immunology and allergy divisions at King Hussein Medical Center based on clinical suspicion of primary immunodeficiency disease during the period from January 2016 to June 2021. Results: The files of 192 patients with history of persistent and recurrent infections were studied. Of these patients, the age ranged from 4 days to 12 years with a mean age of 6 years. Male to female ratio was 2:1. Primary immune deficiency was diagnosed in 90 patients (47%), of these 86.7 % were diagnosed by using flow cytometry based assays and 13.3 % the diagnosis was based on genetic mutation study. Diagnosis of severe combined immune deficiency was identified in 32.2%. There were 43.3% patients with predominant antibody deficiency (common variable immune deficiency and x- linked agammaglobulinaemia. 4.5 % patients were identified with Leukocyte Adhesion Molecules Deficiency (LAD), 4.5 % patients were found to have autoimmune lymphoproliferative syndrome and hemophagocytic lymphohistiocytosis. Post bone marrow transplantation in B- and T- cell reconstitution was the diagnosis in 2.2%. Hyper-IgM syndrome, Wiskott- Aldrich syndrome, chronic granulomatous disease and immune dysregulation, polyendocrinopathy, enteropathy X-linked (IPEX) syndrome were identified 13.3% of patients based on molecular analysis outside. Conclusion: Flow cytometry with its advances in the last years appears to be a highly sensitive and rapid tool for diagnosis and classification of primary immune deficiency, and it is essential as a first line investigation for further early evaluation to improve survival for immunodeficient patients.

Keywords: Immunodeficiency, Flow cytometry, diagnosis.