title: Primary immunodeficiency in the neonate: Early diagnosis and management.
abstract: Many primary immunodeficiencies (PIDs) manifest in the neonatal period but can be challenging to diagnose and manage optimally. In part, the difficulty stems from the natural immaturity of the neonatal immune system that may mask immune deficits and/or complicate interpretation of clinical findings and laboratory assays. The great diversity of PIDs--from innate immune system defects to those that impact the humoral and/or cellular components of the adaptive immune system--and the rapid rate at which new PIDs are being discovered makes it challenging for practitioners to stay current. Moreover, recent appreciation for immune deficiencies that lead to autoinflammation and autoimmunity have broadened the spectrum of neonatal PID, adding additional complexity to an already intricate field. This article serves to highlight the deficiencies in the neonatal immune system, while providing a review of the more common PIDs that present in the neonate and guidelines for diagnosis and supportive care.
authors.affiliation: Department of Pediatrics and Communicable Diseases, University of Michigan Medical Center, Ann Arbor, MI, USA. Electronic address: kwalkovi@med.umich.edu.
authors.forename: Kelly
authors.initials: K
authors.lastname: Walkovich
authors.affiliation: Department of Pediatrics and Communicable Diseases, University of Michigan Medical School, Ann Arbor, MI, USA.
authors.forename: James A
authors.initials: JA
authors.lastname: Connelly
mesh_terms: D056704:Adaptive Immunity / Q000502:physiology; D042241:Early Diagnosis; D006801:Humans; D007113:Immunity, Innate / Q000502:physiology; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000276:immunology / Q000628:therapy*; D007231:Infant, Newborn
keywords: Neonatal immune system; Primary immunodeficiency; Severe combined immunodeficiency; Supportive care; T-cell receptor excision circle