Agammaglobulinemia, x-linked


What are the main symptoms of X-linked agammaglobulinemia?

People with X-linked agammaglobulinemia (XLA) lack antibodies. These specialized proteins protect the body from bacteria, viruses and other foreign substances. Because they lack antibodies, people with XLA experience repeated infections in the body. Infections take longer to get better and come back more frequently. The symptoms can be variable depending of the type of infection.

The most common infections in infants and children with XLA are those that affect the surface of mucous membranes, like the ones that line the nose (rhinitis), eyes (conjunctivitis), middle ear (otitis media), sinuses (sinusitis), and lungs (pneumonia and bronchitis). Rhinitis can cause congestion or a drippy nose. Conjunctivitis can cause redness, pain or tearing. Otitis media can cause pain and difficulty hearing. Sinusitis can cause cough, congestion, headache or toothache. Pneumonia or bronchitis can cause coughing, shortness of breath, mucus production, and fatigue. Skin infections are also common. These can lead to rashes or lesion on the skin. Infections of the stomach and intestines are also common. People with XLA may have chronic diarrhea or abdominal pain.

Additional symptoms may be seen, but they depend on the infection. Infections may spread in the body. If an infection enters the bloodstream, it can be carried deep into the body and affect the internal organs including the bones and the brain. These types of infections can be very serious, even life threatening. Therefore it is important for people with XLA to have appropriate treatment to prevent recurrent infections.

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What symptoms should my doctor be looking for in X-linked agammaglobulinemia?

Are there different types of X-linked agammaglobulinemia?

What symptoms should my doctor be looking for in X-linked agammaglobulinemia?

The main symptoms of X-linked agammaglobulinemia, chronic infections, are common in children. This makes it difficult for a doctor to suspect or diagnose the disorder. There is no formula or pattern of infection for doctors to use to suggest a boy has X-linked agammaglobulinemia. Two things a doctor can look for are missing tonsils or adenoids (glands that sit behind your nose in the back of the throat).

  • Conley ME, Howard VC. X-linked Agammaglobulinemia. GeneReviews website. Accessed May 16, 2016.
Are there different types of X-linked agammaglobulinemia?

There are not different types of X-linked agammaglobulinemia. However, sometimes the disorder will be mild enough that boys will reach adulthood without being diagnosed. Most boys will show signs of the disorder by early childhood. Only about 10% of boys reach the age of 10 without being diagnosed with immune deficiency. In rare instances, boys will reach adulthood without having any severe infections. One man reported in the medical literature reached the age of 51 before he was diagnosed with X-linked agammaglobulinemia. These uncommon people may be referred to as having 'atypical' X-linked agammaglobulinemia.

  • About Primary Immunodeficiencies. The Immune Deficiency Foundation website.
  • Kornfeld SJ, Haire RN, Strong SJ, et al. A novel mutation (Cys145-->Stop) in Bruton's tyrosine kinase is associated with newly diagnosed X-linked agammaglobulinemia in a 51-year-old male. Mol Med. 1996;2(5):619-23.

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