Other adenosine deaminase deficiency
ICD-10 D81.39 is a billable code used to indicate a diagnosis of other adenosine deaminase deficiency.
Adenosine deaminase deficiency (ADA deficiency) is a rare inherited disorder that affects the immune system, leading to severe combined immunodeficiency (SCID). This condition is caused by mutations in the ADA gene, which is responsible for the breakdown of adenosine, a nucleoside that can be toxic at high levels. In individuals with ADA deficiency, the accumulation of toxic metabolites leads to lymphocyte apoptosis, resulting in a profound deficiency of T and B lymphocytes. Clinically, patients may present with recurrent infections, failure to thrive, and other complications associated with immunodeficiency. Diagnosis is typically confirmed through enzyme activity assays and genetic testing. Management may include enzyme replacement therapy, hematopoietic stem cell transplantation, and supportive care to prevent infections. The condition can lead to significant morbidity and mortality if not diagnosed and treated early.
Detailed history of recurrent infections, growth parameters, and family history.
Infants presenting with failure to thrive and recurrent infections.
Documentation should include immunization status and any preventive measures taken.
Laboratory results showing lymphocyte counts and enzyme activity levels.
Patients undergoing evaluation for immunodeficiency with abnormal lymphocyte profiles.
Must document any treatments provided, including stem cell transplants.
Used when confirming a diagnosis of ADA deficiency.
Documentation of clinical suspicion and rationale for testing.
Pediatric specialists may need to coordinate with genetic counselors.
Adenosine deaminase deficiency is primarily caused by mutations in the ADA gene, leading to impaired enzyme function and toxic accumulation of adenosine.
