Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency.

摘要: CONTEXT: Severe combined immunodeficiency (SCID) is a group of disorders that leads to early childhood death as result severe infections. Recent research has addressed potential newborn screening for SCID. OBJECTIVE: To conduct systematic review the evidence SCID, including test characteristics, treatment efficacy, and cost-effectiveness. METHODS: We searched Medline OVID In-Process & Other Non-Indexed Citations databases. excluded articles if they were reviews, editorials or other opinion pieces, case series fewer than 4 patients contained only adult subjects nonhuman data. The remaining systematically evaluated, data abstracted by 2 independent reviewers using standardized tools. For topics lacked published evidence, we interviewed experts in field. RESULTS: initial search resulted 719 articles. Twenty-six met inclusion criteria. results several small studies suggested SCID possible. Interviews revealed states have begun pilot programs. Evidence from large indicates children receiving stem-cell transplant improved outcomes compared with who treated later. There some inconclusive regarding need donor-recipient matching use pretransplant chemotherapy. Few on cost-effectiveness SCID-screening program. CONCLUSIONS: benefits possibility population-based screening. Better information optimal costs would benefit policy makers deciding among competing health care priorities.