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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.
Diagnosis
Diagnostic recommendations
Additional Information
Diagnostic laboratories
Clinical:
Genetic:
Therapeutic options
- Treatment of infections with antibacterials, antifungals, and antivirals. Bone marrow transplantation and gene therapy. Other recommendations include: intravenous gamma-globulin infusion, irradiation of all blood products and early isolation.
- Gene therapy in peripheral blood lymphocytes and bone marrow for ADA- immunodeficient patients
- Gene therapy for adenosine deaminase deficiency