Overview
X-linked agammaglobulinemia (XLA) is an inherited genetic disorder that primarily affects male individuals. It is characterized by a reduced ability to fight infections due to the impaired production of antibodies by the immune system. XLA often results in recurrent bacterial infections in the ear, lungs, sinuses, and skin. Babies with XLA may appear healthy at birth, but they start to develop severe infections once the maternal antibodies they received before birth disappear from their systems. Male infants born with XLA typically have very small tonsils and small or no lymph nodes. XLA is caused by a genetic mutation and can run in families. It is important to manage the condition carefully with appropriate medical attention to prevent complications, which can be life-threatening.
Understanding the disease
Risk Factors
The risk factors for developing X-linked agammaglobulinemia (XLA) include:
- Gender: XLA primarily affects males, although females can be genetic carriers of the condition.
- Family history: About 40% of people with XLA have a family member who also has the condition.
Development
X-linked agammaglobulinemia (XLA) is an inherited immune system disorder that results from a genetic mutation, causing individuals to be unable to produce antibodies that fight infection. This condition primarily affects males, although females can be genetic carriers of the condition. In the early months of life, babies with XLA appear healthy due to the antibodies they received from their mothers before birth. However, as these antibodies clear from their systems, they begin to experience recurrent and often severe bacterial infections in various parts of the body, including the ears, lungs, sinuses, and skin. In contrast to XLA, chronic granulomatous disease (CGD) is an inherited disorder that affects phagocytes, a type of white blood cell responsible for fighting infections. When phagocytes don't function correctly, they can't protect the body from bacterial and fungal infections. CGD can cause infections in various parts of the body, such as the lungs, skin, lymph nodes, liver, stomach, and intestines. Lastly, Waldenstrom macroglobulinemia is a blood disorder where abnormal proteins accumulate in the blood, impairing circulation and causing complications. This condition can occur in both males and females and is more common in older adults, white individuals, and those with a family history of lymphoma.
Assessment and Diagnosis
Diagnosis
To diagnose X-linked agammaglobulinemia, your doctor will first take a medical history to document recurrent infections and perform a physical exam. They will then order blood tests and possibly recommend genetic testing to confirm the diagnosis. Genetic testing can identify the specific genetic mutation causing the condition.