Targeted screening for primary immunodeficiency disorders in the neonatal period and early infancy

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.