Prolonged diagnostic journey in delayed-onset adenosine deaminase deficiency

D Tomomasa, M Takagi, R Watanabe, R Wakatsuki… - Clinical …, 2025 - Elsevier
Adenosine deaminase (ADA) deficiency typically presents as a severe combined
immunodeficiency in early infancy, although its onset may be delayed in some cases. We …

Making sense of adenosine deaminase variants and their clinical implications

E Grunebaum, R Loves, DB Kohn - Journal of Allergy and Clinical …, 2025 - jacionline.org
Deficiency of the purine metabolic enzyme adenosine deaminase 1 (ADA) was first reported
as a cause of human Severe Combined Immune deficiency (SCID) in 1972, by the astute …