Application of flow cytometry in the diagnosis of primary immunodeficiency disease (pid)‎ : king hussein medical center experience

الملخص EN

Objective: To highlight some of the significant applications of flow kilometric immunophenotyping in the diagnosis of Primary Immunodeficiency Disease.

Methods : we reviewed the medical records of 135 consecutive patients who were referred to the Immunology Clinic at King Hussein Medical Center with a flow cytometer based diagnosis of Primary Immunodeficiency Disease between January 2000 to August 2009.

Results : the medical records of 135 patients with history of recurrent or persistent infections were reviewed.

Seventy seven (57 %) patients were males and 58(43 %) were females.

They aged between 2 and 120 months with a mean age of 13 months.

Flow cytometer-based diagnosis was identified in 68 (50.3 %) patients.

Predominant antibody deficiency was diagnosed in 14 (10.3 %) patients.

There were 35(26 %) patients with T and B cell immunodeficiency.

There were 6 patients’ satisfied diagnostic criteria of possible Hyper IgM Immunodeficiency syndrome.

Diagnosis of severe combined immunodeficiency was retrieved in 22(16.2 %) patients.

Primary phagocytic disorder was the diagnosis in 34 (25 %) patients.

Dihydrorhodamine flow cytometer-based burst test was confirmatory for Chronic Granulomatous Diseases in one patient while in the other 14 patients diagnosis was based on nitro blue tetrazoleoum test and genetic mutation study.

There were 8 (6%) patients with other well defined immunodeficiency syndromes; one patient with Weskit Aldrich Syndrome, 5 patients with Ataxia Telangiectasia, one with Bloom syndrome, and one with DiGeorge anomaly.

Eight (6 %) patients were found to have an immunedysregulation syndrome.

There were 8(6 %) patients with an undefined primary immunodeficiency.

Post Bone marrow transplantation Immune reconstitution of T-, B-cells and Leukocyte adhesion molecules were identified in 14 patients with appropriate Flow cytometer immunophenotyping assay.

Conclusion : Flow kilometric immunophenotyping of leucocytes appears to be an efficient and rapid tool in the diagnosis and follow-up of immunodeficient patients, supporting early recognition, which is reflected on reduced morbidity and improved survival.