Combined immunodeficiency due to STIM1 deficiency is a rare, inherited disorder that affects the immune system. It is caused by mutations in the STIM1 gene, which provides instructions for making a protein called STIM1. This protein is involved in the activation of immune cells, such as T cells and B cells, which are important for fighting infections. People with this disorder have a weakened immune system, which makes them more susceptible to infections. Symptoms may include recurrent infections, failure to thrive, and skin rashes. Treatment typically involves antibiotics, immunoglobulin therapy, and bone marrow transplantation.

The symptoms of Combined immunodeficiency due to STIM1 deficiency can vary from person to person, but may include:

-Recurrent infections, especially of the lungs, sinuses, and skin
-Failure to thrive
-Diarrhea
-Recurrent fever
-Recurrent ear infections
-Recurrent pneumonia
-Recurrent viral infections
-Recurrent fungal infections
-Recurrent bacterial infections
-Chronic Inflammation of the intestines
-Chronic Inflammation of the liver
-Chronic Inflammation of the lymph nodes
-Chronic Inflammation of the skin
-Chronic Inflammation of the eyes
-Chronic Inflammation of the joints
-Chronic Inflammation of the kidneys
-Chronic Inflammation of the brain
-Chronic Inflammation of the heart
-Chronic Inflammation of the blood vessels
-Chronic

Combined immunodeficiency due to STIM1 deficiency is caused by mutations in the STIM1 gene. This gene provides instructions for making a protein called STIM1, which is involved in calcium signaling. Calcium signaling is a process that helps regulate many important functions in the body, including the immune system. Mutations in the STIM1 gene lead to a decrease in the amount of functional STIM1 protein, which impairs calcium signaling and causes combined immunodeficiency.

The main treatment for Combined immunodeficiency due to STIM1 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 help them fight off infections. Other treatments may include antibiotics, antiviral medications, and immunoglobulin replacement therapy.

1. Genetic mutation in the STIM1 gene
2. Family history of Combined immunodeficiency due to STIM1 deficiency
3. Premature birth
4. Low birth weight
5. Exposure to certain environmental toxins
6. Exposure to certain medications
7. Exposure to certain infections

At this time, there is no cure for Combined Immunodeficiency due to STIM1 deficiency. However, there are medications and treatments available to help manage the symptoms. These include antibiotics, immunoglobulin replacement therapy, and bone marrow transplantation. Additionally, some patients may benefit from lifestyle modifications such as avoiding contact with people who are ill, eating a healthy diet, and getting plenty of rest.