adenosine deaminase deficiency


adenosine deaminase deficiency

A uniformly fatal autosomal dominant [MIM 102700] disease, which consitutes 40% of patients with sever combined immunodeficiency disease.
 
Clinical findings
Cellular immune dysfunction, oral candidiasis, intractable diarrhoea, failure to thrive, severe diaper rash, pseudoachondrodysplasia, death by age 2.
 
Lab
Lymphopaenia < 0.5 x 109/L (US, < 500 mm3), especially T cells; eosinophilia; increased adenosine and deoxyadenosine in serum and urine.
 
Management
Gene therapy; rarely, bone marrow transplantation.

adenosine deaminase deficiency

ADA deficiency A uniformly fatal AD disease, which consitutes 40% of Pts with SCID Clinical Cellular immune dysfunction, oral candidiasis, intractable diarrhea, FTT, severe diaper rash, pseudoachondrodysplasia, death by age 2 Lab ↓ Lymphocytes < 0.5 x 109/L–US, < 500 mm3, especially T cells; eosinophilia; ↑ adenosine and deoxyadenosine in serum and urine Treatment Gene therapy; rarely BMT. See Cartilage-hair syndrome.