Severe combined immunodeficiency [SCID] with low or normal B-cell numbers
ICD-10 D81.2 is a billable code used to indicate a diagnosis of severe combined immunodeficiency [scid] with low or normal b-cell numbers.
Severe combined immunodeficiency (SCID) is a rare genetic disorder characterized by a profound defect in both T-lymphocyte and B-lymphocyte systems, leading to a severely compromised immune response. In cases classified under D81.2, patients exhibit low or normal B-cell numbers, which can complicate the clinical picture. SCID is often diagnosed in infancy, with affected individuals presenting with recurrent infections, failure to thrive, and other complications due to their inability to mount effective immune responses. The underlying genetic mutations can vary, and the condition may be inherited in an X-linked or autosomal recessive manner. Management typically involves supportive care, such as prophylactic antibiotics and immunoglobulin replacement therapy, and definitive treatment options like hematopoietic stem cell transplantation. Early diagnosis and intervention are crucial to improve outcomes and reduce morbidity associated with infections.
Detailed immunological assessments, family history, and infection history.
Infants presenting with recurrent infections, failure to thrive, and abnormal laboratory findings.
Documentation must clearly outline the immunodeficiency type and any genetic testing results.
Comprehensive immunological profiles, including T-cell and B-cell counts, and genetic testing results.
Patients undergoing evaluation for primary immunodeficiencies with abnormal immune function tests.
Accurate coding requires correlation of clinical findings with laboratory results.
Used to evaluate hematopoietic function in SCID patients.
Document indication for aspiration and findings.
Pediatric hematology may require additional details on the patient's immunological status.
Common symptoms include recurrent infections, failure to thrive, and chronic diarrhea. Infants may present with severe infections shortly after birth.
Diagnosis is typically made through immunological testing, including lymphocyte subset analysis and genetic testing to identify specific mutations.
Treatment options include prophylactic antibiotics, immunoglobulin replacement therapy, and hematopoietic stem cell transplantation, which can be curative.
