title: Should newborns be screened for immunodeficiency?: lessons learned from infants with recurrent otitis media.
abstract: Recurrent otitis media in children is considered one of the warning signs of primary immunodeficiencies (PIDs), particularly antibody deficiencies. Infants who have the most serious and potentially lethal form of PID, severe combined immunodeficiency (SCID), sometimes present with recurrent otitis media. Most of the time, because of the severity of the immune defect, they develop more serious and systemic infections. SCID is distinct among the PIDs and considered a pediatric emergency. Diagnosing SCID during the newborn period is crucial because survival completely depends on early diagnosis and treatment. Mortality declines significantly if immune reconstitution is established before 3.5 months of age, particularly before severe infections have occurred. However, most patients are diagnosed after they have suffered chronic or recurrent infections and developed permanent sequelae. Without institution of population-based newborn screening, most infants will miss the opportunity to live a healthy life.
authors: Department of Pediatrics, West Virginia University School of Medicine, Morgantown, USA. ydemirdag@hsc.wvu.edu
authors: Yesim
authors: Y
authors: Yilmaz-Demirdag
mesh_terms: D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis*; D007231:Infant, Newborn; D015997:Neonatal Screening; D010033:Otitis Media / Q000276:immunology*