About Combined immunodeficiency due to DOCK8 deficiency
What is Combined immunodeficiency due to DOCK8 deficiency?
Combined immunodeficiency due to DOCK8 deficiency is a rare, inherited disorder that affects the immune system. It is caused by mutations in the DOCK8 gene, which is responsible for producing a protein that helps regulate the activity of certain white blood cells. People with this disorder have a weakened immune system, which makes them more susceptible to infections. Symptoms may include recurrent infections, skin rashes, and enlarged lymph nodes. Treatment typically involves antibiotics, immunoglobulin therapy, and bone marrow transplantation.
What are the symptoms of Combined immunodeficiency due to DOCK8 deficiency?
The symptoms of Combined immunodeficiency due to DOCK8 deficiency can vary from person to person, but may include:
-Recurrent infections, especially of the skin, lungs, and sinuses
-Chronic diarrhea
-Failure to thrive
-Recurrent viral infections
-Recurrent bacterial infections
-Recurrent fungal infections
-Autoimmune disorders
-Allergies
-Eczema
-Recurrent ear infections
-Recurrent pneumonia
-Recurrent sinusitis
-Recurrent bronchitis
-Recurrent eye infections
-Recurrent urinary tract infections
-Recurrent yeast infections
-Lymphadenopathy
-Enlarged lymph nodes
-Recurrent fever
-Anemia
-Thrombocytopenia
-Recurrent abscesses
-Gastrointestinal
What are the causes of Combined immunodeficiency due to DOCK8 deficiency?
Combined immunodeficiency due to DOCK8 deficiency is caused by mutations in the DOCK8 gene. This gene provides instructions for making a protein that is involved in the development and function of certain immune system cells, including T cells and B cells. Mutations in the DOCK8 gene lead to a deficiency of this protein, which impairs the development and function of these cells and leads to a weakened immune system.
What are the treatments for Combined immunodeficiency due to DOCK8 deficiency?
The primary treatment for Combined Immunodeficiency due to DOCK8 deficiency is hematopoietic stem cell transplantation (HSCT). This is a procedure in which healthy stem cells are transplanted into the patient to replace the defective stem cells. Other treatments may include intravenous immunoglobulin (IVIG) therapy, which helps to boost the patient's immune system, and antibiotics to prevent and treat infections. In some cases, gene therapy may be used to correct the genetic defect that causes the disorder.
What are the risk factors for Combined immunodeficiency due to DOCK8 deficiency?
1. Genetic mutation: The most common risk factor for Combined Immunodeficiency due to DOCK8 deficiency is a genetic mutation in the DOCK8 gene.
2. Family history: Individuals with a family history of Combined Immunodeficiency due to DOCK8 deficiency are at an increased risk of developing the condition.
3. Ethnicity: Individuals of Ashkenazi Jewish descent are more likely to have a genetic mutation in the DOCK8 gene, which increases their risk of developing Combined Immunodeficiency due to DOCK8 deficiency.
4. Age: Children are more likely to develop Combined Immunodeficiency due to DOCK8 deficiency than adults.
Is there a cure/medications for Combined immunodeficiency due to DOCK8 deficiency?
Yes, there is a cure for Combined Immunodeficiency due to DOCK8 deficiency. The treatment involves a bone marrow transplant from a healthy donor. This procedure replaces the defective immune system with a healthy one. In some cases, medications such as immunoglobulins and corticosteroids may be used to help manage symptoms.