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Abstract
Primary immunodeficiency diseases (PID) comprise a group of more than 200 distinct diseases that affect development and /or function of the immune system. The Aim of this study was diagnosis of PID among a high risk group of neonates and infants within the first six months of life, and identification of the warning signs of PID characteristic to the neonatal period and infancy. Fifty neonates were enrolled in the study. 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 age of presentation for PID group was 1.42±1.38 months with a diagnostic lag of 3.08±1.78 months. Consanguinity was (76.9%) among the PID group. Lower respiratory tract infections and persistent fungal infections in the form of oral and/or diaper moniliasis 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. Presence of three or more risk factors increased the risk of being diagnosed with a PID disorder thirteen times more than patients with one or two risk factors only with a significant statistical p value (<0.01).Focused screening in high risk families proved to be a valuable tool for diagnosis and initiation of therapy aiming at better prognosis