Agammaglobulinemia, x-linked
Overview
What is X-linked agammaglobulinemia?
X-linked agammaglobulinemia is a genetic disorder that affects the immune system. X-linked means that it is caused by a change in a gene on the X chromosome. Agammaglobulinemia means that a person lacks immunoglobulins, or antibodies, in the blood. Antibodies are used by the immune system to fight off bacteria, viruses and other foreign material in the body. Without these antibodies the body cannot fight off infections, particularly bacterial infections.
At birth and for about 1 or 2 months, infants are protected by antibodies they received from their mother during pregnancy. These antibodies cross over the placenta and remain in an infant's system for a couple months after birth. After these maternal antibodies start to disappear, infants may develop recurrent infections, usually between 3 and 18 months of age. The most common infections in infants with X-linked agammaglobulinemia are ear infections, sinus infections, and lung infections like bronchitis and pneumonia. Skin and gastrointestinal infections are also common.
X-linked agammaglobulinemia usually is found in boys. Girls rarely develop symptoms. The disorder is caused by changes in the BTK gene. X-linked agammaglobulinemia is also called Bruton’s agammaglobulinemia.
References
- Conley ME, Howard VC. X-linked Agammaglobulinemia. GeneReviews website. http://www.ncbi.nlm.nih.gov/books/NBK1453/ Accessed May 16, 2016.
- X-linked Agammaglobulinemia. Genetic Home Reference website. https://ghr.nlm.nih.gov/condition/x-linked-agammaglobulinemia Accessed June 3, 2016.
More Overview Content
Are there other names for X-linked agammaglobulinemia?
How common is X-linked agammaglobulinemia?
How is X-linked agammaglobulinemia abbreviated?
How is X-linked agammaglobulinemia classified?
Are there other names for X-linked agammaglobulinemia?
X-linked agammaglobulinemia is also known as:
- Bruton’s agammaglobulinemia
- Bruton type agammaglobulinemia
- BTK-deficiency
- XLA
References
- Conley ME, Howard VC. X-linked Agammaglobulinemia. GeneReviews website. http://www.ncbi.nlm.nih.gov/books/NBK1453/ Accessed May 16, 2016.
- Agammaglobulinemia, X-linked. Online Mendelian Inheritance in Man (OMIM) website. http://www.omim.org/entry/300755 Accessed May 19, 2016.
How common is X-linked agammaglobulinemia?
Approximately 1 in 200,000 newborns has X-linked agammaglobulinemia (XLA). Because of the way it is inherited, almost all people with XLA are male. Females who inherit the genetic change that causes XLA are carriers, but almost always unaffected. People from any racial or ethnic group can have XLA.
References
- Conley ME, Howard VC. X-linked Agammaglobulinemia. GeneReviews website. http://www.ncbi.nlm.nih.gov/books/NBK1453/ Accessed May 16, 2016.
- X-linked Agammaglobulinemia. Genetic Home Reference website. https://ghr.nlm.nih.gov/condition/x-linked-agammaglobulinemia Accessed June 3, 2016.
How is X-linked agammaglobulinemia abbreviated?
The standard medical abbreviation for X-linked agammaglobulinemia is XLA.
References
- Agammaglobulinemia, X-linked. Online Mendelian Inheritance in Man (OMIM) website. http://www.omim.org/entry/300755 Accessed May 19, 2016.
How is X-linked agammaglobulinemia classified?
X-linked agammaglobulinemia is classified as a primary immunodeficiency disorder. There are more than 250 different disorders in this group. They are rare, chronic disorders in which some part of the immune system does not function properly. They are caused by a change in a gene that affects the immune system. In X-linked agammaglobulinemia, people lack antibodies, the specialized proteins that help the body to fight off bacteria, viruses and other foreign substances.
References
- Conley ME, Howard VC. X-linked Agammaglobulinemia. GeneReviews website. http://www.ncbi.nlm.nih.gov/books/NBK1453/ Accessed May 16, 2016.
- About Primary Immunodeficiencies. The Immune Deficiency Foundation website. http://primaryimmune.org/about-primary-immunodeficiencies/
