Prepair 1000+

Gene: ADA

Green List (high evidence)

Adenosine deaminase (ADA) deficiency is a systemic purine metabolic disorder that primarily affects
lymphocyte development, viability, and function.

Genotype-phenotype correlation: Both phenotypes have the same MIM#102700. The partial phenotype was used in early reports for patients identified with a mild phenotype. According to GeneReviews, severity and onset vary depending on variant type. Variants with complete loss of function of the enzyme cause neonatal onset of severe combined immunodeficiency (null variants and missense resulting in low enzyme activity) and variants with some residual enzyme function cause progressive immunodeficiency with delayed onset (PMIDs: 20301656, 8673127).

Mode of inheritance: AR and somatic. Somatic mosaicism has been shown to arise from a reversion to WT, which can result in progressively milder phenotype (PMID: 8673127).

Created: 23 Oct 2024, 10:59 p.m. | Last Modified: 23 Oct 2024, 10:59 p.m.

Panel Version: 1.471

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe combined immunodeficiency due to ADA deficiency MIM#102700 AR, Smo; Adenosine deaminase deficiency, partial MIM#102700 AR,SMo.

Publications

• 20301656
• 8673127