Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).

Abstract excerpt

We have identified a previously unrecognized missense mutation in a patient with severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID). The mutation is a G646-to-A transition at a CG dinucleotide and predicts a glycine-to-arginine substitution at codon 216. Computer analysis of secondary structure predicts a major alteration with loss of a beta-pleated sheet in a highly conserved...

Topics

• Adenosine Deaminase
• Base Composition
• Cell Line, Transformed
• Chromosome Deletion
• Deoxyribonucleases, Type II Site-Specific
• Dinucleoside Phosphates
• Erythrocytes
• Exons
• Heterozygote
• Homozygote