X-linked lymphoproliferative disease
X-linked lymphoproliferative disease (XLP), also known as Duncan's disease or Purtilo syndrome, is a rare genetic disorder characterized by an inappropriate immune response to the Epstein-Barr virus (EBV). This condition primarily affects males and can lead to severe immunological complications.
Causes[edit | edit source]
XLP is caused by mutations in specific genes located on the X chromosome:
- XLP1: Resulting from mutations in the SH2D1A gene, which encodes the SLAM-associated protein (SAP). Deficiencies in SAP impair the function of T and natural killer (NK) cells, leading to uncontrolled immune responses upon EBV infection.
- XLP2: Caused by mutations in the *XIAP* gene, leading to defects in apoptosis regulation and immune system dysfunction.
Symptoms[edit | edit source]
Individuals with XLP may exhibit:
- Fulminant Infectious Mononucleosis (FIM): An exaggerated response to EBV infection, leading to severe illness.
- Hemophagocytic Lymphohistiocytosis (HLH): A life-threatening condition characterized by excessive immune activation and tissue damage.
- Dysgammaglobulinemia: Abnormal levels of immunoglobulins, resulting in increased susceptibility to infections.
- Lymphomas: Increased risk of developing cancers of the lymphatic system.
Diagnosis[edit | edit source]
Diagnostic approaches include:
- Genetic testing: Identifying mutations in the SH2D1A or XIAP genes.
- Immunological assessments: Evaluating immune cell function and immunoglobulin levels.
- Family History analysis: Considering the X-linked inheritance pattern to assess risk in male relatives.
Treatment[edit | edit source]
Management strategies encompass:
- Hematopoietic stem cell transplantation (HSCT): The only curative treatment, replacing defective immune cells with healthy donor cells.
- Immunoglobulin replacement therapy: Administering immunoglobulins to prevent infections.
- Targeted therapies: Utilizing medications to modulate immune responses and control symptoms.
Prognosis[edit | edit source]
Without treatment, XLP often leads to severe complications and reduced life expectancy. Early diagnosis and appropriate interventions, such as HSCT, can significantly improve outcomes.
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
