HELIOS deficiency

HELIOS deficiency is a rare, non-severe combined immunodeficiency caused by a change in the IKZF2 gene. In this condition, the gene does not work as it should. People with HELIOS deficiency have an immune system that sometimes has difficulty fighting infections. This can lead to various health challenges related to infections in different parts of the body. The condition is noted for causing several issues including frequent upper respiratory infections, thrush, and mucosal ulcers. These problems indicate that the natural barriers of the body, such as those in the nose, throat, and mouth, may not work as well as they should. Additionally, chronic lymphadenopathy, or persistent swelling of the lymph nodes, is a common feature. This swelling shows that the immune system is continuously active as it works to defend the body against infections.

People with HELIOS deficiency may experience recurrent upper respiratory infections, which affect the nose, throat, or lungs. They may also develop thrush, a fungal infection in the mouth, and mucosal ulcers, which are open sores on the inner lining of the mouth or other mucosal areas. Chronic lymphadenopathy, or ongoing swelling of the lymph nodes, is another sign that the immune system is continuously trying to fight off infections.

HELIOS deficiency is caused by a loss-of-function change in the IKZF2 gene. This genetic variation reduces the gene’s normal function, which can impact the body’s ability to fight infections. Although specific details about inheritance patterns are not provided, this genetic change is a key factor in the development of the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.