Severe Combined Immunodeficiency Disorders

• Published in: Immunology and allergy clinics of North America Vol. 35; no. 4; p. 671
• Main Authors: Chinn, Ivan K, Shearer, William T
• Format: Journal Article
• Language: English
• Published: United States 01.11.2015
• Subjects: Diagnosis, Differential; Disease Management; Humans; Infant, Newborn; Neonatal Screening; Severe Combined Immunodeficiency - diagnosis; Severe Combined Immunodeficiency - etiology; Severe Combined Immunodeficiency - therapy; Newborn screening; Severe combined immunodeficiency disease; Transplantation; Gene therapy; DiGeorge anomaly
• ISSN: 1557-8607
• DOI: 10.1016/j.iac.2015.07.002

Severe combined immunodeficiency disorders represent pediatric emergencies due to absence of adaptive immune responses to infections. The conditions result from either intrinsic defects in T-cell development (ie, severe combined immunodeficiency disease [SCID]) or congenital athymia (eg, complete DiGeorge anomaly). Hematopoietic stem cell transplant provides the only clinically approved cure for SCID, although gene therapy research trials are showing significant promise. For greatest survival, patients should undergo transplant before 3.5 months of age and before the onset of infections. Newborn screening programs have yielded successful early identification and treatment of infants with SCID and congenital athymia in the United States.