Severe Combined Immunodeficiency Disorders

Ivan K Chinn; William T Shearer

doi:10.1016/j.iac.2015.07.002

Severe Combined Immunodeficiency Disorders

Immunol Allergy Clin North Am. 2015 Nov;35(4):671-94. doi: 10.1016/j.iac.2015.07.002.

Authors

Ivan K Chinn¹, William T Shearer²

Affiliations

¹ Section of Immunology, Allergy, and Rheumatology, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, 1102 Bates Avenue, Suite 330, Houston, TX 77030-2399, USA. Electronic address: chinn@bcm.edu.
² Section of Immunology, Allergy, and Rheumatology, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, 1102 Bates Avenue, Suite 330, Houston, TX 77030-2399, USA.

PMID: 26454313
DOI: 10.1016/j.iac.2015.07.002

Abstract

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.

Keywords: DiGeorge anomaly; Gene therapy; Newborn screening; Severe combined immunodeficiency disease; Transplantation.

Publication types

Review

MeSH terms

Diagnosis, Differential
Disease Management
Humans
Infant, Newborn
Neonatal Screening
Severe Combined Immunodeficiency / diagnosis*
Severe Combined Immunodeficiency / etiology
Severe Combined Immunodeficiency / therapy*