Severe combined immunodeficiency due to DNA-PKcs deficiency (SCID-DNA-PKcs) is a rare, inherited disorder of the immune system. It is caused by a mutation in the gene that encodes the DNA-dependent protein kinase catalytic subunit (DNA-PKcs). People with this disorder have a severe deficiency of T cells, B cells, and natural killer cells, which are all important components of the immune system. This leads to recurrent infections, which can be life-threatening. Treatment typically involves a bone marrow transplant or gene therapy.

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

-Recurrent infections, including bacterial, viral, and fungal infections
-Failure to thrive
-Diarrhea
-Pneumonia
-Skin rashes
-Frequent fevers
-Enlarged lymph nodes
-Anemia
-Thrombocytopenia
-Hepatomegaly
-Splenomegaly
-Developmental delays
-Growth retardation
-Recurrent ear infections
-Recurrent sinus infections
-Recurrent eye infections
-Recurrent respiratory infections
-Recurrent urinary tract infections

Severe combined immunodeficiency due to DNA-PKcs deficiency is caused by mutations in the DNA-PKcs gene. These mutations can be inherited from a parent or can occur spontaneously.

The primary treatment for Severe Combined Immunodeficiency due to DNA-PKcs 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 gene therapy, which involves introducing a healthy copy of the defective gene into the patient's cells, and immunoglobulin replacement therapy, which involves providing the patient with healthy immune cells.

1. Family history of SCID
2. Maternal exposure to certain medications during pregnancy
3. Premature birth
4. Low birth weight
5. Male gender
6. Congenital malformations
7. Abnormal laboratory findings, such as low levels of immunoglobulins or lymphocytes

At this time, there is no cure for Severe Combined Immunodeficiency due to DNA-PKcs 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.