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[Leucocyte adhesion deficiency: detection of the first cases in Paraguay]
Diana Sanabria1, Vivian Giménez2, Celia Martínez-de Cuellar3
1Universidad Nacional de Asunción, Instituto de Investigaciones en Ciencias de la Salud, Departamento de Inmunología, San Lorenzo, Paraguay. dsanabria@iics.una.py.
Insights
A new diagnostic technique for Leukocyte Adhesion Deficiency (LAD) was implemented, establishing normal CD18 and CD15 expression ranges. This method successfully identified the first two LAD cases in Paraguay.
Area of Science:
- Immunology
- Pediatric Hematology
- Diagnostic Techniques
Background:
- Leukocyte Adhesion Deficiency (LAD) is a rare primary immunodeficiency disorder.
- Accurate and timely diagnosis is crucial for effective management and improved patient outcomes.
- Flow cytometry is a key technique for evaluating leukocyte surface markers.
Purpose of the Study:
- To implement and validate a diagnostic technique for LAD using CD18 and CD15 expression analysis.
- To establish reference ranges for CD18 and CD15 expression in healthy pediatric patients.
- To evaluate the diagnostic utility of this technique in pediatric patients with suspected LAD.
Main Methods:
- An observational, descriptive, cross-sectional study was conducted on pediatric patients.
- Peripheral blood leukocytes were analyzed using flow cytometry to assess CD18 and CD15 expression.
- Normal expression ranges were determined from a cohort of healthy children.
Main Results:
- Sixty pediatric patients were studied (20 healthy, 40 with suspected LAD).
- Normal CD18 and CD15 expression in healthy individuals ranged from 95%-100%.
- Two cases of LAD were identified: one with 0% CD18 expression (LAD-1) and one with 0% CD15 expression (LAD-2).
Conclusions:
- The implemented flow cytometry technique effectively established normal CD18 and CD15 ranges.
- This diagnostic approach enabled the detection of the first reported cases of LAD in Paraguay.
- The study highlights the importance of this technique for diagnosing LAD in pediatric populations.
Objective:
To implement the diagnostic technique for LAD by evaluating the expression of CD18 and CD15 in healthy patients and in a group with clinical suspicion.
Methods:
Observational, descriptive, and cross-secctional study, carried out in pediatric patients attended in the Instituto de Investigaciones en Ciencias de la Salud, and patients from public hospitals with clinical suspicion of LAD were studied. The molecules CD18 and CD15 in peripheral blood leukocytes was evaluated by flow cytometry, establishing a normal range in healthy patients. The presence of LAD was established by decreased expression of CD18 or CD15.
Results:
Sixty pediatric patients were evaluated: 20 apparently healthy and 40 with clinical suspicion of leukocyte adhesion deficiency; 12 of 20 healthy patients were male (median age: 14 years) and 27 of 40 with suspected disease were female (median age: 2 years). Persistent leukocytosis and respiratory tract (32%) infections predominated. The expression range of CD18 and CD15 in healthy patients was 95%-100%, and in patients with clinical suspicion it was 0%-100%. One patient with 0% of CD18 (LAD-1) and one patient with 0% of CD15 (LAD-2) were detecte.
Conclusions:
The implementation of a new diagnostic technique allowed to establish a normal range of CD18 and CD15 by flow cytometry, and it was possible to detect the first two cases of LAD in Paraguay.
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