D81.31
Severe combined immunodeficiency due to adenosine deaminase deficiency
Clinical Classification Guidelines
Inclusion Terms
- ADA deficiency with SCID
- Adenosine deaminase [ADA] deficiency with severe combined immunodeficiency
Medical Intelligence & Overview
Severe combined immunodeficiency (SCID) caused by adenosine deaminase (ADA) deficiency is a rare, potentially life-threatening genetic disorder. It impairs the immune system, making it difficult for the body to fight infections. This condition is often present from birth and requires specialized medical attention to manage. Understanding the causes, symptoms, diagnosis, and treatment options can help in early identification and intervention, which are crucial for improving outcomes.
Causes & Symptoms
Clinical Causes: Genetic mutations affecting the ADA gene Inheritance pattern is typically autosomal recessive, meaning a child must inherit defective copies of the gene from both parents The deficiency leads to a build-up of toxic metabolites that damage immune cells No known environmental or lifestyle factors directly cause this condition In some cases, new mutations may occur, but most cases are inherited
Key Symptoms: Frequent, severe infections that are difficult to treat, including pneumonia, meningitis, and skin infections Failure to thrive or poor weight gain in infants Persistent diarrhea and recurrent skin rashes Enlarged lymph nodes, liver, or spleen Delayed development and growth milestones Increased susceptibility to opportunistic infections like fungal, viral, and bacterial pathogens Possible signs of immune system failure apparent early in life
Diagnostic & Treatment
Diagnosis Path: Complete blood count (CBC) showing low levels of lymphocytes (a type of immune cell) Flow cytometry to evaluate immune cell populations Measurement of enzymatic activity of ADA in blood or tissues Genetic testing to identify mutations in the ADA gene Immunoglobulin level testing to assess immune function Confirmation through molecular genetic testing to establish the specific mutation
Treatment Protocols: Enzyme replacement therapy (ERT) using pegylated ADA to supplement the deficient enzyme Hematopoietic stem cell transplantation (HSCT) from a matched donor, offering the possibility of a cure Gene therapy to correct the genetic defect in patients who lack suitable donors Antimicrobial prophylaxis and prompt treatment of infections Supportive care, including nutritional support and management of complications Regular monitoring of immune status and growth
Clinical Advice & FAQs
Billing Guidance
Is D81.31 a billable ICD-10 code?
Yes, D81.31 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report D81.31?
Clinical documentation must specify the nature of Severe combined immunodeficiency due to adenosine deaminase deficiency and any associated comorbidities for accurate reporting.
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