rs121908721
This is a protein-altering variant in the ADA gene.
▶ClinVar annotation
Severe combined immunodeficiency disease (SCID); Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
View on ClinVar →▶Research that mentions this SNP (1)
▶Identification of two new missense mutations (R156C and S291L) in two ADA− SCID patients unusual for response to therapy with partial exchange transfusionsCase reportN=2Hirschhorn R. et al.(1992)· Human Mutation
This paper identifies two new missense mutations in the ADA (adenosine deaminase) gene in two ADA-SCID patients. Patient GM02471 carries the R156C mutation (c.466C>T) on one allele and L304R on the other. Patient GM04258 carries the S291L mutation (c.872C>T) on one allele and the relatively common A329V mutation on the other. Both patients were unusual in responding to enzyme replacement therapy via partial exchange transfusions, suggesting these mutation combinations result in a milder phenotype.
About ADA
This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia. [provided by RefSeq, Sep 2019]
View all ADA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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