Background: Primary immunodeficiency diseases (PID) comprise a group of more than 300 diseases that affect development
and /or function of the immune system.
Objectives: The aim of this study was diagnosis of PID among a suspected group of neonates and infants within the first six
months of life as well as identifying the warning signs of PID characteristic to this period.
Method: Fifty neonates presenting with warning signs of PID were enrolled in the study.
Results: The study revealed that twenty six patients (52%) were diagnosed with Primary Immunodeficiency, T cell/combined
immunodeficiency were noted as the most common PID class (88.5%) with fourteen T-B-SCID patients (70%) and six T-B+
SCID patients (30%), phagocytic disorders were estimated to be 7.7% while 3.8% were unclassified immunodeficiency. The
mean age of presentation for PID group was 1.42±1.38 months with a diagnostic lag of 3.08±1.78 months. Consanguinity was
positive in 76.9% of the PID group. Lower respiratory tract infections ,persistent fungal infections and lymphopenia were the
most significant warning signs for diagnosing PID with a p value of (0.01). Combined, lower respiratory tract infections, fungal
infections and lymphopenia were 12.3 times more likely to be associated with PID.
Conclusion: Focused screening in high risk neonates proved to be a valuable tool for diagnosis of PID disorders.
DOI: https://dx.doi.org/10.4314/ahs.v19i1.18
Cite as: Galal N, Ohida M, Meshaal S, Abd Elaziz D, I E. Targeted screening for primary immunodeficiency disorders in the neonatal period
and early infancy. Afri Health Sci. 2019;19(1). 1449-1459. https://dx.doi. org/10.4314/ahs.v19i1.18 
