X-linked agammaglobulinemia

Symptoms
Causes
Risk factors
Prevention

Overview

X-linked agammaglobulinemia (XLA) is an inherited immune system disorder that impairs your infection-fighting ability. This condition primarily affects males, though females can carry the genetic mutation. XLA makes individuals susceptible to infections in the inner ear, sinuses, respiratory tract, bloodstream, and internal organs. Diagnosis often occurs during infancy or early childhood due to recurrent infections, but some cases may not be identified until adulthood. It’s crucial for carriers of the genetic mutation to be aware of the potential risks and to seek medical guidance for early detection and management.
Symptoms
In the initial months, infants with X-linked agammaglobulinemia (XLA) may seem healthy due to maternal antibodies passed on during pregnancy. However, as these maternal antibodies diminish, the babies commonly experience severe and recurring bacterial infections. These infections, affecting areas like the ears, lungs, sinuses, and skin, can pose life-threatening risks.
Male newborns with XLA typically exhibit:
- Noticeably small tonsils
- Underdeveloped or absent lymph nodes
When to see a doctor

Abnormal symptoms may be a warning sign of potential dangerous diseases. Please contact our team of doctors immediately for detailed advice and update the most accurate and appropriate health care method.
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Causes

X-linked agammaglobulinemia arises from a genetic mutation, resulting in the inability to generate infection-fighting antibodies. Approximately 40% of individuals with this condition have a familial history of the disorder.
Risk factors

The primary risk factor for X-linked agammaglobulinemia is having a family history of the condition. Approximately 40% of those affected have a relative who also has X-linked agammaglobulinemia. This genetic disorder is inherited in an X-linked recessive manner, primarily affecting males. Females can be carriers of the mutated gene. Due to the genetic nature of the disorder, individuals with a family history of X-linked agammaglobulinemia are at an increased risk of developing the condition or being carriers of the gene mutation.
Prevention

Currently, there is no known way to prevent X-linked agammaglobulinemia as it is a genetic disorder. It is inherited through specific genetic mutations and follows an X-linked recessive pattern. Genetic counseling and testing can help individuals understand their risk of passing on the condition to their children. Early diagnosis through newborn screening or recognizing symptoms in infancy can lead to prompt medical intervention and management. Regular medical check-ups and appropriate treatment, such as immunoglobulin replacement therapy and antibiotics, can help manage infections and improve the quality of life for individuals with X-linked agammaglobulinemia.
*Please note that the information provided in the article is for reference purposes only. It is essential to consult a doctor before applying any of the suggestions mentioned.