Understanding X-linked Agammaglobulinemia
X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency disorder in which the body is unable to produce antibodies, leaving individuals highly susceptible to infections.
Key Fact: XLA is caused by a mutation in the BTK gene and almost exclusively affects males, as the gene is located on the X chromosome.
Common Symptoms
Recurrent Infections
Frequent and severe bouts of pneumonia, bronchitis, and sinus infections.
Small/Absent Tonsils
Physically small or completely absent tonsils and lymph nodes.
Chronic Diarrhea
Persistent gastrointestinal issues caused by infections like Giardia.
Skin Infections
Bacterial infections of the skin that recur despite treatment.
Risk Factors
- Family history of immunodeficiency
- Male sex (X-linked inheritance)
Diagnosis & Treatment
Diagnosis
Diagnosis involves checking the levels of antibodies (immunoglobulins) in the blood and genetic testing.
Common Treatments
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IVIG Therapy: Regular intravenous or subcutaneous infusions of immunoglobulin (antibodies) to provide passive immunity.
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Antibiotic Prophylaxis: Long-term low-dose antibiotics to help prevent bacterial infections before they start.
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Infection Monitoring: Prompt and aggressive treatment of any new fever or signs of infection.