X-linked agammaglobulinemia
This genetic disease weakens the immune system — mainly in males — and leads to frequent infections.
Overview
X-linked agammaglobulinemia (a-gam-uh-glob-u-lih-NEE-me-uh) — also called XLA — is an inherited (genetic) immune system disorder that reduces your ability to fight infections. People with XLA might get infections of the inner ear, sinuses, respiratory tract, bloodstream and internal organs.
XLA affects males almost exclusively, although females can be genetic carriers of the condition. Most people with XLA are diagnosed in infancy or early childhood, after they've had repeated infections. Some people aren't diagnosed until adulthood.
Symptoms
Babies with XLA generally appear healthy for the first few months because they're protected by the antibodies they got from their mothers before birth. When these antibodies clear from their systems, the babies begin to develop often severe, recurrent bacterial infections — such as of the ears, lungs, sinuses and skin — that can be life-threating.
Male infants born with XLA have:
- Very small tonsils
- Small or no lymph nodes
Causes
X-linked agammaglobulinemia is caused by a genetic mutation. People with the condition can't produce antibodies that fight infection. About 40% of people with the condition have a family member who has it.
Women can pass down X-linked recessive disorders such as X-linked agammaglobulinemia. A woman who is a carrier of an X-linked recessive disorder has a 25% chance of having an unaffected son, a 25% chance of having an affected son, a 25% chance of having an unaffected daughter and a 25% chance of having a daughter who also is a carrier.
Complications
People with XLA can live relatively normal lives and should be encouraged to participate in regular activities for their ages. However, recurrent infections related to XLA will likely require careful attention and aggressive treatment. They can cause organ damage and be life-threatening.
Possible complications include:
- Chronic lung disease
- Increased risk of certain cancers
- Infectious arthritis
- Increased risk of central nervous system infections from live vaccines
Diagnosis
Your doctor will take a medical history to document recurrent infections and do a physical exam. He or she will order blood tests and possibly recommend genetic testing to confirm the diagnosis.
Treatment
There's no cure for XLA. The goal of treatment is to boost the immune system, preventing infections and aggressively treating infections that occur.
Medications
Medications to treat XLA include:
-
Gammaglobulin. This is a type of protein found in blood that contains antibodies against infections. It's given by infusion into a vein every two to four weeks or by weekly injection.
Reactions to gammaglobulin can include headache, chills, backache and nausea. Reactions are more likely to occur during a viral infection.
- Antibiotics. Some people with XLA receive continuous antibiotics to prevent infections. Others take antibiotics for bacterial infections longer than people without XLA do.
Your doctor will likely recommend that you have follow-up visits every six to 12 months to screen for complications of XLA. You'll also likely be advised to not get live vaccines, such as live polio, measles-mumps-rubella or chickenpox vaccines.