X-Linked Agammaglobulinemia Symptoms & Causes

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What is X-linked agammaglobulinemia?

The first immunodeficiency disease ever identified, X-linked agammaglobulinemia is caused by a gene, located on the X chromosome that makes your child unable to produce antibodies. Children with this disease are prone to infections in the middle ear, sinuses, and lungs, but the bloodstream and internal organs may also be affected.

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.

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
  • Skin 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.

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