Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Pre-symptomatic, Therapeutic management
Adenosine deaminase (ADA) deficiency is a systemic purine metabolic disorder that primarily affects lymphocyte development, viability, and function. The clinical phenotypic spectrum includes: Severe combined immunodeficiency disease (SCID), often diagnosed by age six months and usually by age 12 months; Less severe "delayed" onset combined immune deficiency (CID), usually diagnosed between age one and ten years; "Late/adult onset" CID, diagnosed in the second to fourth decades; Benign "partial ADA deficiency" (very low or absent ADA activity in erythrocytes but greater ADA activity in nucleated cells), which is compatible with normal immune function. Infants with typical early-onset ADA-deficient SCID have failure to thrive and opportunistic infections associated with marked depletion of T, B, and NK lymphocytes, and an absence of both humoral and cellular immune function. If immune function is not restored, children with ADA-deficient SCID rarely survive beyond age one to two years. Infections in delayed- and late-onset types (commonly, recurrent otitis, sinusitis, and upper respiratory) may initially be less severe than those in individuals with ADA-deficient SCID; however, by the time of diagnosis these individuals often have chronic pulmonary insufficiency and may have autoimmune phenomena (cytopenias, anti-thyroid antibodies), allergies, and elevated serum concentration of IgE. The longer the disorder goes unrecognized, the more immune function deteriorates and the more likely are chronic sequelae of recurrent infection.
- Autoimmune hemolytic anemia
- Asthma
- Chronic mucocutaneous candidiasis
- Diarrhea
- Eosinophilia
- Skin rash
- Hepatomegaly
- Lymphopenia
- Pneumonia
- Sinusitis
- Splenomegaly
- B-cell lymphoma
- Severe combined immunodeficiency disease
- Decreased circulating IgA level
- Increased circulating IgE level
- Decreased circulating total IgM
- Autoimmune thrombocytopenia
- Diffuse mesangial sclerosis
- Chronic diarrhea
- Aplasia of the thymus
- Recurrent pneumonia
- Growth arrest lines
- Recurrent viral infections
- Recurrent bacterial infections
- Recurrent fungal infections
- Platyspondyly
- Anterior rib cupping
- Motor delay
- B lymphocytopenia
- Absent specific antibody response
- Severe B lymphocytopenia
- Failure to thrive
- Recurrent fever
- Horizontal inferior border of scapula
- Inflammatory abnormality of the skin
- Abnormal pelvic girdle bone morphology
- Decreased circulating IgG2 level
- Reduced red cell adenosine deaminase level
- Adrenal cortical sclerosis
Show allThe Invitae Purine Metabolism Disorders Panel analyzes genes that are associated with abnormalities in the synthesis, interconversion, and degradation of the purines, adenine and guanine. Symptoms can include gout, anemia, epilepsy, developmental delays, intellectual disabilities, kidney problems, and immune deficiencies. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of disease-causing variants provides accurate risk assessment and determines carrier status in at-risk relatives.
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