Early diagnosis of severe combined immunodeficiency (SCID) in Turkey: a pilot study

Abstract

Objective: Severe combined immunodeficiency (SCID) is a neonatal emergency. As the T-cell receptor excision circles (TREC) test is not cost effective for neonatal screening of SCID in developing countries, this pilot study’s objective aimed at identifying preliminary data to enable SCID identification in the general population.Methods: This observational study was performed in Bagcılar Training and Research Hospital, Istanbul, Turkey. Cord-blood complete blood count (CBC) was recorded in all neonates included in the study. Absolute lymphopenia was considered in cord-blood samples if the absolute lymphocyte count was less than 2500/mm3. A control blood count was performed 1-month later for cases with detected lymphopenia.Results: A total of 2945 term neonates were included in the study. Absolute lymphopenia was found in nine (0.3%) neonates, while 2936 (99.7%) had an absolute lymphocytic count above 2.5 × 103/mm3. The mean counts of red blood cells (RBC), hemoglobin (HGB), hematocrit (HCT), platelets (PLT), and monocytes in the lymphopenia group were not found to significantly differ from the non-lymphopenia group. However, there were significantly lower mean white blood cell (WBC), lymphocyte, and neutrophil counts between the groups (p < .05).Conclusion: Absolute lymphopenia detected using CBC analysis is a simple, easier, more non-invasive, and cheaper method than the TREC method for detection of SCID neonates, and this method may prove to be a useful alternative, especially in developing countries.