Adenosine deaminase deficiency

Affected infants present: recurrent chronic viral, fungal, protozoal, and bacterial infections and frequently present with persistent diarrhoea, failure to thrive and candidiasis. Severely affected cases present neonatally with no detectable lymphocytes in peripheral blood or bone marrow and both cell-mediated and humoral immunity is defective. Some patients have had associated bony and hair growth abnormalities and occasionally non-specific neurological disorders, attributed to malnutrition or viral infection.There are two forms of ADA deficiency, complete ADA deficiency with associating immunodeficiency (B-T cell CD4- lympho and thrombopenia), skeletal dysplasia, recurrent respiratory infections and asthma, hepatosplenomegaly and partial ADA deficiency with slow progressive or late onset.

Therapeutic options