Major histocompatibility complex class I deficiency
ICD-10 D81.6 is a billable code used to indicate a diagnosis of major histocompatibility complex class i deficiency.
Major histocompatibility complex class I (MHC I) deficiency is a rare immunological disorder characterized by the absence or dysfunction of MHC I molecules on the surface of cells. These molecules play a crucial role in the immune system by presenting peptide fragments derived from intracellular proteins to CD8+ T cells, which are essential for the recognition and elimination of infected or malignant cells. Patients with MHC I deficiency are prone to recurrent viral infections, particularly from cytomegalovirus (CMV) and other herpesviruses, due to their impaired ability to mount an effective cytotoxic T cell response. The condition can be inherited in an autosomal recessive manner and may present in infancy or early childhood. Clinical manifestations can include failure to thrive, recurrent respiratory infections, and chronic skin lesions. Diagnosis typically involves genetic testing to identify mutations in the genes responsible for MHC I expression, along with immunological assays to assess T cell function. Management focuses on preventing infections, which may include prophylactic antiviral therapy and, in severe cases, hematopoietic stem cell transplantation.
Thorough documentation of immunological tests, genetic testing results, and clinical history of infections.
Patients presenting with recurrent viral infections and failure to thrive.
Ensure all relevant laboratory results are included in the medical record to support the diagnosis.
Detailed records of any hematopoietic stem cell transplant procedures and follow-up care.
Management of patients with severe MHC I deficiency requiring transplantation.
Document any complications related to hematopoietic stem cell transplantation.
Used when evaluating a patient for MHC I deficiency.
Documentation of the clinical rationale for testing and results interpretation.
Immunologists should ensure comprehensive documentation of all tests performed.
Common symptoms include recurrent viral infections, failure to thrive, and chronic skin lesions. Patients may also experience severe infections from common viruses like CMV.
