Syndromes > A

Adenosine Deaminase Deficiency

"Heterogeneous systemic disorder caused by the deficiency of adenosine deaminase (ADA) resulting primarily in severe combined (cellular and humoral) immunodeficiency but also systemic abnormalities.1. SCID, which is diagnosed in the first year of life, presents with failure to thrive and recurrent (most often opportunistic) infections. Lymphopenia is profound (most severe of all forms of SCID), with absent cellular and humeral immune function.

2. Delayed onset, for which the diagnosis usually is made between 1 and several years of age. Patients present with clinical deterioration secondary to the combined immunodeficiency.

3. Late onset, for which diagnosis is made after the first decade of life, secondary to major immunologic and clinical deterioration (initially chronic chest infections, oral and vaginal candidiasis, viral warts, recurrent dermatomal zoster).

4. Partial ADAD, in which the patient is ADA deficient but otherwise healthy, with normal immune function.

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