Severe Combined Immunodeficiency (SCID) is a rare genetic disorder that devastates the immune system, leaving individuals highly susceptible to infections. Among its various types, the IL7R gene-related SCID, characterized by T-cell negative, B-cell positive, and Natural Killer (NK) cell-positive profiles, presents unique challenges and symptoms. DNA Labs UAE offers a comprehensive genetic test for this specific condition, providing crucial insights for affected families. Understanding the symptoms and the importance of early diagnosis can significantly impact the management and outcome of this condition.
Symptoms of IL7R Gene Severe Combined Immunodeficiency
The IL7R gene plays a pivotal role in the development and function of the immune system, particularly in the maturation of T-cells. Mutations in this gene can lead to a form of SCID where the body lacks functional T-cells but has normal numbers of B-cells and NK cells. This imbalance leads to a series of clinical manifestations, often noticeable in the first few months of life. Key symptoms include:
- Recurrent infections: Affected infants are highly susceptible to bacterial, viral, and fungal infections, which are often severe and difficult to treat.
- Failure to thrive: This refers to significantly slower growth rates in weight and height compared to healthy infants, largely due to the energy spent fighting infections.
- Chronic diarrhea: Persistent digestive issues are common, further complicating nutrition and growth.
- Respiratory distress: Recurrent respiratory infections, such as pneumonia, can lead to chronic breathing difficulties.
- Skin rashes: Eczema or other skin conditions can be more prevalent and severe in affected infants.
These symptoms, particularly when occurring in combination, can signal the presence of SCID and warrant immediate medical attention. Early diagnosis is critical for the effective management and treatment of the condition.
IL7R Gene Severe Combined Immunodeficiency Genetic Test
DNA Labs UAE offers a specialized genetic test to diagnose the IL7R gene-related SCID. This test is a powerful tool for families with a history of the condition or those whose infants present with symptoms suggestive of SCID. The test involves analyzing the DNA to identify mutations in the IL7R gene that are known to cause the disease. It provides conclusive evidence of the condition, enabling timely and targeted interventions.
The cost of the IL7R gene severe combined immunodeficiency genetic test is 4400 AED. While the cost may seem significant, the value it provides in terms of early diagnosis and the potential to guide life-saving treatment cannot be overstated. Early intervention can significantly improve the quality of life and survival rates for affected children.
For more information about the IL7R gene severe combined immunodeficiency genetic test and to schedule a test, please visit DNA Labs UAE.
Conclusion
Severe Combined Immunodeficiency due to IL7R gene mutations is a rare but life-threatening condition that affects the immune system from a very early age. Recognizing the symptoms early in life and undergoing genetic testing can make a significant difference in the management and outcome of the disease. DNA Labs UAE is at the forefront of providing comprehensive and accurate genetic testing for this condition, offering hope and solutions to affected families. With the right interventions, affected children can lead healthier lives, underscoring the importance of awareness and early diagnosis.
