D82.3
Immunodeficiency following hereditary defective response to Epstein-Barr virus
Clinical Classification Guidelines
Inclusion Terms
- X-linked lymphoproliferative disease
Medical Intelligence & Overview
X-linked lymphoproliferative disease (XLP), classified under ICD-10 code D82.3, is a rare genetic disorder that affects the immune system. It is characterized by an abnormal response to infections by the Epstein-Barr virus (EBV), leading to weakened immunity and increased health risks. This condition primarily affects males and is inherited in an X-linked pattern. Individuals with XLP have difficulty controlling EBV infections, which can sometimes lead to severe complications such as lymphoma or other immune system issues.
Causes & Symptoms
Clinical Causes: Genetic mutations: Mutations in the SH2D1A gene on the X chromosome cause XLP. These mutations impair the immune system's ability to respond appropriately to EBV infections. Inheritance pattern: As an X-linked disorder, it predominantly affects males who inherit the defective gene from their carrier mothers. Failure to respond to EBV: The defective immune response is specific to the Epstein-Barr virus, which normally triggers immune activation that controls the infection.
Key Symptoms: Persistent or severe illness following EBV infection, such as mononucleosis-like symptoms Hemophagocytic lymphohistiocytosis (HLH), a life-threatening condition characterized by excessive immune activation Lymphadenopathy (swollen lymph nodes) Splenomegaly (enlarged spleen) Hepatomegaly (enlarged liver) Pancytopenia (reduction in red blood cells, white blood cells, and platelets) Increased risk of lymphoma or other cancers Immunodeficiency manifesting as recurrent infections
Diagnostic & Treatment
Diagnosis Path: Diagnosis of X-linked lymphoproliferative disease involves a combination of clinical evaluation, family history analysis, and laboratory tests. Confirmatory diagnosis typically includes genetic testing to identify mutations in the SH2D1A gene, along with immune function testing to assess responses to viral infections. Blood tests may reveal abnormalities such as low blood cell counts or evidence of hemophagocytosis. Additionally, flow cytometry can evaluate immune cell populations, and EBV viral load measurements can detect active or latent infection.
Treatment Protocols: Management of XLP focuses on controlling infections and preventing severe immune reactions. Common approaches include:
Clinical Advice & FAQs
Billing Guidance
Is D82.3 a billable ICD-10 code?
Yes, D82.3 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report D82.3?
Clinical documentation must specify the nature of Immunodeficiency following hereditary defective response to Epstein-Barr virus and any associated comorbidities for accurate reporting.
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