Forms and Documents
- Confirmation of the clinical diagnosis by testing the affected child
- Confirmation of the clinical diagnosis by testing the parents of an affected child
- Differential diagnosis from other types of SCID, for therapy decisions
- Carrier testing in siblings or other relatives
- Prenatal diagnosis in at-risk pregnancies
- Capillary Sequencing
- 279.2 Combined immunity deficiency
- Hershfield MS, Mitchell BS, 1995, Immunodeficiency caused by adensosine deaminase deficiency and purine nucleoside phosphorylase deficiency In: Scriver CR et al (ed) The Metabolic and Molecular Bases of Inherited Disease, 7th edition. McGraw Hill, New Yor
- Hirschhorn R, et al, 1992, Novel deletion and a new missense mutation (Glu217Lys) a the catalytic site in two adenosine deaminase alleles of a patient with neonatal onset adenosine-deaminase severe combined immunodeficiency. J Immunol 149, 3107.
- Berkvens, TM, et al, 1987, Severe combined immune deficiency due to a homozygous 3.2 kb deletion spanning the promoter and first exon of the adenosine deamninase gene. NAR 15:9365.