Agammaglobulinemia
Agammaglobulinemia
Agammaglobulinemia (pronounced: a-gam-ma-glob-u-lin-e-mia) is a rare, inherited immune system disorder that is characterized by a lack of B cells and, consequently, an absence or extremely low levels of antibodies in the bloodstream.
Etymology
The term "Agammaglobulinemia" is derived from the Greek words "a-" meaning "without", "gamma" meaning "third letter of the Greek alphabet", and "globulin", referring to a family of proteins. The term literally means "without gamma globulins", which is another term for antibodies.
Types
There are two main types of Agammaglobulinemia:
- X-linked Agammaglobulinemia (XLA): This is the most common type and affects mostly males. It is caused by mutations in the Bruton's tyrosine kinase (BTK) gene.
- Autosomal recessive Agammaglobulinemia (ARA): This type can affect both males and females and is caused by mutations in various genes.
Symptoms
Symptoms of Agammaglobulinemia typically appear in early childhood and may include recurrent bacterial infections, sinusitis, pneumonia, and gastroenteritis. Due to the lack of antibodies, individuals with this condition are more susceptible to infections.
Diagnosis
Diagnosis of Agammaglobulinemia is typically made through blood tests that measure the levels of immunoglobulins in the blood. Genetic testing may also be performed to identify mutations in the BTK gene or other genes associated with the condition.
Treatment
Treatment for Agammaglobulinemia primarily involves immunoglobulin replacement therapy, which provides the missing antibodies to the patient. This therapy can help to prevent infections and improve the patient's quality of life.
Related Terms
External links
- Medical encyclopedia article on Agammaglobulinemia
- Wikipedia's article - Agammaglobulinemia
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