Combined immunodeficiency due to ZAP70 deficiency is a rare, inherited disorder that affects the immune system. It is caused by mutations in the ZAP70 gene, which provides instructions for making a protein called ZAP70. This protein is important for the development and function of certain white blood cells, which are the body’s main defense against infection. 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 ZAP70 deficiency can vary from person to person, but may include:

-Recurrent infections, especially of the lungs, sinuses, and skin
-Chronic diarrhea
-Failure to thrive
-Recurrent fever
-Recurrent ear infections
-Recurrent viral infections
-Recurrent bacterial infections
-Recurrent fungal infections
-Autoimmune disorders
-Allergies
-Lymphadenopathy
-Hepatomegaly
-Splenomegaly
-Pneumonia
-Pulmonary fibrosis
-Gastrointestinal problems
-Developmental delays
-Growth delays
-Neurological problems
-Cognitive delays
-Behavioral problems
-Skin rashes
-Hematological abnormalities

Combined immunodeficiency due to ZAP70 deficiency is caused by mutations in the ZAP70 gene. This gene provides instructions for making a protein called ZAP70, which is involved in the development and function of certain immune cells called T cells. Mutations in the ZAP70 gene lead to a decrease in the amount of functional ZAP70 protein, which impairs the development and function of T cells. This results in a weakened immune system and an increased risk of infections.

The main treatment for Combined Immunodeficiency due to ZAP70 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 ZAP70 gene
2. Family history of Combined immunodeficiency due to ZAP70 deficiency
3. Exposure to environmental toxins
4. Premature birth
5. Low birth weight
6. Exposure to certain medications or infections during pregnancy

At this time, there is no cure for Combined Immunodeficiency due to ZAP70 deficiency. However, there are medications and treatments available to help manage the symptoms. These include antibiotics, antivirals, and immunoglobulin replacement therapy. Additionally, bone marrow or stem cell transplants may be recommended in some cases.