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Abstract
Severe combined immunodeficiency (SCID) is a rare disorder that is lethal in childhood if not diagnosed and treated properly. Recently, a number of states have begun neonatal screening programs for SCID to facilitate diagnosis and improve outcomes. Here we review the pathogenesis and treatment of SCID. We also review the rationale for statewide screening programs, the molecular basis for the screening test, and discuss the experience to date of statewide screening in Wisconsin, the first state to implement such a program.
- ADA;
- adenosine deaminase
- HLA;
- human leukocyte antigen
- IL;
- interleukin
- MHC;
- major histocompatibility complex
- PCR;
- polymerase chain reaction
- SCID;
- severe combined immunodeficiency
- TCR;
- T-cell receptor
- TREC;
- T-cell receptor excision circle
- Copyright © 2013 by the American Academy of Pediatrics
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- Article
- Abstract
- Educational Gap
- Objectives
- Introduction
- T-Cell Development
- Clinical Presentation
- Therapy for Severe Combined Immunodeficiency
- The Rationale for Severe Combined Immunodeficiency Screening
- The T-Cell Receptor Excision Circle Assay
- The Wisconsin Experience
- Current Status of Severe Combined Immunodeficiency Screening in the United States
- Footnotes
- References
- Figures & Data
- Info & Metrics
- Comments