adenosine deaminase deficiency

info · Immune · ICD-10: D81.30

A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP.

Signs and symptoms

Aplasia of the thymus
Motor delay
Failure to thrive
Inflammatory abnormality of the skin
Decreased total lymphocyte count
Recurrent pneumonia
Diarrhea
Increased total eosinophil count
Severe combined immunodeficiency
Horizontal inferior border of scapula

Also known as: ADA