Severe combined immunodeficiency due to IKK2 deficiency (also known as IKK2-SCID) is a rare, inherited disorder that affects the immune system. It is caused by a mutation in the IKK2 gene, which is responsible for producing a protein called IKK2. This protein is essential for the normal functioning of the immune system, and when it is not present, the body is unable to fight off infections. People with IKK2-SCID are at risk for serious and life-threatening infections, and require lifelong treatment with antibiotics and other medications.

The symptoms of Severe combined immunodeficiency due to IKK2 deficiency can vary from person to person, but may include:

-Recurrent infections, including bacterial, viral, and fungal infections
-Failure to thrive
-Diarrhea
-Skin rashes
-Frequent fevers
-Lymphadenopathy (enlarged lymph nodes)
-Pneumonia
-Hepatitis
-Anemia
-Thrombocytopenia (low platelet count)
-Splenomegaly (enlarged spleen)
-Growth retardation
-Developmental delays
-Cognitive impairment
-Hearing loss
-Vision problems
-Autoimmune disorders

Severe combined immunodeficiency due to IKK2 deficiency is caused by mutations in the IKK2 gene. This gene is responsible for producing a protein called IKK2, which is involved in the regulation of the immune system. Mutations in this gene can lead to a weakened immune system, resulting in severe combined immunodeficiency.

The primary treatment for Severe Combined Immunodeficiency due to IKK2 deficiency is hematopoietic stem cell transplantation (HSCT). HSCT is a procedure in which healthy stem cells are transplanted into the patient to replace the defective stem cells. This procedure can restore the patient's immune system and allow them to produce healthy immune cells. Other treatments may include immunoglobulin replacement therapy, which involves the administration of intravenous immunoglobulin (IVIG) to help boost the patient's immune system. Additionally, gene therapy may be used to correct the genetic defect that causes the disorder.

1. Genetic mutation in the IKK2 gene
2. Family history of Severe combined immunodeficiency due to IKK2 deficiency
3. Premature birth
4. Low birth weight
5. Exposure to certain medications or toxins
6. Exposure to certain infections
7. Exposure to radiation

At this time, there is no cure for Severe Combined Immunodeficiency (SCID) due to IKK2 deficiency. However, there are treatments available to help manage the condition. These include bone marrow transplantation, gene therapy, and enzyme replacement therapy. Additionally, medications such as immunoglobulins, antibiotics, and antivirals may be used to help prevent and treat infections.