Forms and Documents
- Confirmation of a clinical diagnosis
- Molecular follow-up to abnormal result in newborn screen for T-cell receptor excision circles
- Differentiation between X-linked and autosomal forms of SCID
- Carrier detection in female relatives of an affected male
- Prenatal diagnosis in at-risk pregnancies
- Capillary Sequencing
- 279.2 Combined immunity deficiency
- 279.1 Deficiency of cell-mediated immunity
- Human Gene Mutation Database (Biobase International, professional version 2010.4).
- Pepper et al. (1995) Am J Hum Genet 57:564-571.
- Puck et al. (1997) Blood 89(6):1968-1977
- Niemela et al. (2000) Clinical Immunology 95(1): 33-38.
- Kalman et al. (2004) Genetics is Medicine (review) 6(1): 16-26
- GeneReviews at GeneTests: Medical Genetics Information Resource. Copyright, University of Washington, Seattle. 1993- 2010. Available at http://www.ncbi.nlm.nih.gov Accessed 08-2010.