title: Genotype is an important determinant of phenotype in adenosine deaminase deficiency.
abstract: Adenosine deaminase (ADA) deficiency is associated with a broad clinical and mutational spectrum. Defining the relationship of genotype to phenotype among patients with different degrees of immunodeficiency has been complicated because the disease is rare, most mutations are 'private' and patients are often heteroallelic. In recent years, knowledge of ADA structure and systematic expression of mutant alleles have revealed that phenotype is strongly associated with the sum of ADA activity provided by both alleles. A scale for ranking novel ADA alleles based on expression may have utility if newborn screening for primary immunodeficiency disorders is initiated.
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency* / Q000235:genetics*; D000595:Amino Acid Sequence; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D009030:Mosaicism; D009154:Mutation; D010641:Phenotype; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000378:metabolism
chemical_list: D000243:Adenosine Deaminase