Severe combined immunodeficiency due to CTPS1 deficiency is a rare, inherited disorder that affects the immune system. It is caused by mutations in the CTPS1 gene, which is responsible for the production of an enzyme called cytidine triphosphate synthase 1. This enzyme is essential for the production of certain molecules that are important for the development and function of the immune system. People with this disorder have a severely weakened immune system, making them highly susceptible to infections.

The symptoms of Severe combined immunodeficiency due to CTPS1 deficiency can vary from person to person, but may include:

-Recurrent infections, including bacterial, viral, and fungal infections
-Chronic diarrhea
-Failure to thrive
-Recurrent skin rashes
-Recurrent respiratory infections
-Recurrent ear infections
-Recurrent sinus infections
-Recurrent eye infections
-Recurrent urinary tract infections
-Recurrent fungal infections
-Recurrent yeast infections
-Recurrent oral thrush
-Recurrent colds and flu
-Recurrent pneumonia
-Recurrent meningitis
-Recurrent sepsis
-Recurrent fever
-Enlarged lymph nodes
-Enlarged spleen
-Enlarged liver
-Anemia
-Low white blood cell

Severe combined immunodeficiency due to CTPS1 deficiency is caused by mutations in the CTPS1 gene. This gene provides instructions for making an enzyme called cytidine 5'-triphosphate synthase 1 (CTPS1). This enzyme is involved in the production of molecules called nucleotides, which are the building blocks of DNA and RNA. Mutations in the CTPS1 gene reduce or eliminate the activity of the CTPS1 enzyme, which disrupts the production of nucleotides and leads to a shortage of these molecules. This shortage impairs the development and function of immune cells, resulting in severe combined immunodeficiency.

The primary treatment for Severe combined immunodeficiency due to CTPS1 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 providing the patient with regular infusions of immunoglobulins to help boost their immune system. Additionally, gene therapy may be used to correct the genetic defect that causes the condition.

1. Genetic inheritance: Severe combined immunodeficiency due to CTPS1 deficiency is an inherited disorder caused by mutations in the CTPS1 gene.

2. Ethnicity: This disorder is more common in individuals of Ashkenazi Jewish descent.

3. Age: Severe combined immunodeficiency due to CTPS1 deficiency is usually diagnosed in infancy.

At this time, there is no cure for Severe Combined Immunodeficiency due to CTPS1 deficiency. However, there are treatments available to help manage the condition. These treatments include bone marrow transplantation, gene therapy, and enzyme replacement therapy. Additionally, medications such as immunoglobulins, antibiotics, and antivirals may be prescribed to help manage symptoms and reduce the risk of infection.