X-Linked Agammaglobulinemia | Symptoms & Causes
What are the symptoms of X-linked agammaglobulinemia?
Symptoms are likely to become apparent when your child is between 6 and 9 months old. Each child may experience symptoms differently, but common symptoms include an unusual susceptibility to numerous illnesses such as:
- Nasal infections
- Skin infections
- Bone infections
- Eye infections (including pink eye)
- Meningitis
- Bronchitis
- Sepsis, or infection of the blood stream
- Pneumonia
- Diarrhea (from gastrointestinal infections)
- Viral infections like hepatitis and polio
- Failure to grow
- Absence of tonsils and adenoids
- Joint disease, primarily in the knees, similar to juvenile rheumatoid arthritis
- Kidney inflammation
- Red blood cell breakdown
- SDkin and muscle inflammation
The symptoms of X-linked agammaglobulinemia may resemble other problems or medical conditions. Always consult your child's physician for a diagnosis.
What causes X-linked agammaglobulinemia?
Women may carry the gene, but are unlikely to develop the disorder. However, an affected mother has a 50/50 chance of passing the gene to her child. Your child may be the first in your family to be diagnosed with X-linked agammaglobulinemia; this could be because the disease is a result of a new genetic mutation.
X-Linked Agammaglobulinemia | Diagnosis & Treatments
How is X-linked agammaglobulinemia diagnosed?
Your physician will make the diagnosis based on your child's medical history. Your doctor will conduct a physical exam and may order blood tests to help confirm the diagnosis.
How is X-linked agammaglobulinemia treated?
Treatments vary based on your child's age, health, and medical history; the extent of your child's disease; his tolerance for specific medications, procedures, and therapies; and, of course, your own opinions and preference.
Standard treatments include:
- Antibody replacement: Gamma globulin therapy, administered intravenously, will give your child the antibodies he cannot make himself, in order to protect against infections and reduce their spread.
- Prompt treatment of any infections
- Avoidance of live viral vaccinations, such as the polio vaccine, as that could cause your child to develop the disease which the vaccine is meant to prevent
Children with X-linked agammaglobulinemia can become very ill or even die at an early age from severe infections. Children who develop chronic lung disease with bronchiectasis (widening and scarring of the airways) may have a shortened lifespan. But your child, if diagnosed and treated early, should be able to lead a relatively normal, active life, without the need for isolation.
How we care for X-linked agammaglobulinemia
The Immunology Program team at Boston Children’s Hospital evaluates and treats children with various types of immune system disorders. We are widely recognized as one of the world leaders in immunology treatment and research.
