DOI: 10.1177/09732179251361585
ISSN: 0973-2179
Abhishek Chandira, Abhilasha S, G Eshwar Goud
background
Table of Contents
Severe combined immunodeficiency disease (SCID) is a serious inherited
primary immunodeficiency disorder (PID) affecting T- and B-cells, leading
to recurrent infections in infancy. Though newborns appear healthy, serious
infections arise within the first year. Measuring absolute lymphocyte count
(ALC) in umbilical cord blood enables early, cost-effective detection,
which is crucial in resource-limited settings. This study presents India’s
first SCID screening and the fourth globally, highlighting the potential to
improve survival through early diagnosis and timely treatment.
Objectives
To estimate the incidence of absolute lymphopenia in umbilical cord blood
samples of newborns and determine its utility in screening for SCID, and to
evaluate other causes of lymphopenia in newborns.
Methodology
A longitudinal study was conducted on 1,550 newborns with gestational ages
above 32 weeks, at a tertiary care center in North Karnataka. Umbilical
cord blood (2 mL) was collected at delivery and subjected to complete blood
count (CBC) analysis. Neonates with absolute lymphopenia underwent detailed
history-taking, clinical examination, additional investigations, and
follow-up according to the study protocol.
Results
In this study of 1,550 newborns, 6.67% had absolute lymphopenia (ALC
<2,500/µL), exceeding the rates in three other global studies,
possibly related to the region’s higher consanguinity rate. Causes of
lymphopenia included prematurity, sepsis, congenital anomalies, and
idiopathic factors, with a higher prevalence in males and a significant
association with consanguinity. The mode of delivery did not impact
lymphopenia rates. Lymphopenic infants required active resuscitation, had
lower birth weights, and poorer APGAR (appearance, pulse, grimace,
activity, and respiration) scores. Substantially lower levels of
hemoglobin, white blood cell (WBC) count, and absolute neutrophil count
(ANC) were noted in lymphopenic newborns.
Conclusion
The incidence of absolute lymphopenia was greater than in three other
studies done worldwide. We advocate for incorporating the measurement of ALC
in umbilical cord blood as part of standard screening protocols for early
detection and management of PIDs, including SCID.