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.
X-linked Agammaglobulinemia. Genetic Home Reference website. https://ghr.nlm.nih.gov/condition/x-linked-agammaglobulinemia Accessed June 3, 2016.
Conley ME, Howard VC. X-linked Agammaglobulinemia. GeneReviews website. http://www.ncbi.nlm.nih.gov/books/NBK1453/ Accessed May 16, 2016.