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Diseases

Genetic and Rare Diseases Information Center (GARD)

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X-linked agammaglobulinemia


Other Names for this Disease
  • Agammaglobulinemia, Bruton tyrosine kinase
  • Agammaglobulinemia, BTK
  • Bruton type agammaglobulinemia
  • Bruton's agammaglobulinemia
  • BTK-deficiency
More Names
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Overview



What is X-linked agammaglobulinemia?

What are the signs and symptoms of X-linked agammaglobulinemia?

How might X-linked agammaglobulinemia be treated?


What is X-linked agammaglobulinemia?

X-linked agammaglobulinema is a genetic condition that affects the immune system and occurs almost exclusively in males. Affected individuals have very few B cells in the body, which produce antibodies called immunoglobulins that help protect the body against infection. Those with this condition are more susceptible to infections because their body makes very few of these antibodies.This condition is inherited in an X-linked recessive pattern and is caused by mutations in the BTK gene.[1]
Last updated: 4/20/2011

What are the signs and symptoms of X-linked agammaglobulinemia?

Affected infants are usually healthy for the first few months of life until they begin to develop recurrent bacterial infections. The most common bacterial infections are ear infections, pneumonia, pink eye, sinus infections, and infections that cause chronic diarrhea. These bacterial infections can be severe and life-threatening. Most affected individuals are not vulnerable to infections caused by viruses. Infections can usually be prevented with proper treatment.[1]
Last updated: 4/20/2011

How might X-linked agammaglobulinemia be treated?

Managing X-linked agammaglobulinemia (XLA) mainly consists of preventing infections and treating infections aggressively when they do occur. Sudden infections in individuals with XLA are usually treated with antibiotics that are taken for at least twice as long as taken in healthy individuals. Preventing bacterial infections is very important for people with XLA. Gammaglobulin (a type of protein in the blood that contains antibodies to prevent or fight infections) is the main treatment for people with XLA. In the past, most people received this by intravenous (IV) infusion every two to four weeks. However, in the last few years, an increasing number of people have been receiving it by weekly subcutaneous injections. The choice of whether to receive it intravenously or by injection may just depend on what is most convenient for the doctor and/or patient. Sometimes, people with XLA have a reaction to gammaglobulin, which may include headaches, chills, backache, or nausea. These reactions are more likely to occur when they have a viral infection or when the brand of gammaglobulin has been changed. Some centers use chronic prophylactic antibiotics (continuous use of antibiotics) to prevent bacterial infections.[2]

Aggressive use of antibiotics lower the chance of chronic sinusitis and lung disease, which are common complications in individuals with XLA. Early diagnosis and treatment of bowel infections may decrease the risk of inflammatory bowel disease (IBD). Furthermore, children with XLA should not be given live viral vaccines. For example, they should be given inactivated polio vaccine (IPV) rather than the oral polio vaccine. The siblings of children with XLA should also be given inactivated polio vaccine (IPV) rather than oral polio vaccine in order to avoid infecting their affected sibling with live virus.[2]
Last updated: 8/3/2011

References
  1. X-linked agammaglobulinemia. Genetics Home Reference. September 2008; http://ghr.nlm.nih.gov/condition/x-linked-agammaglobulinemia. Accessed 4/20/2011.
  2. Mary Ellen Conley, Vanessa C Howard. X-Linked Agammaglobulinemia. GeneReviews. July 30, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1453/. Accessed 8/3/2011.