Dock8

DOCK8 Immunodeficiency Syndrome
Synonyms	DOCK8 deficiency, Hyper-IgE syndrome type 2
Pronounce	N/A
Specialty	N/A
Symptoms	Recurrent infections, eczema, high levels of IgE
Complications	Autoimmunity, Malignancy
Onset	Childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the DOCK8 gene
Risks	Family history
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	N/A
Prevention	N/A
Treatment	Hematopoietic stem cell transplantation, supportive care
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

DOCK8 Immunodeficiency Syndrome is a rare primary immunodeficiency disorder caused by mutations in the DOCK8 gene. This condition is characterized by recurrent infections, severe eczema, and elevated levels of immunoglobulin E (IgE). It is also known as DOCK8 deficiency or Hyper-IgE syndrome type 2.

Presentation

Individuals with DOCK8 Immunodeficiency Syndrome typically present in childhood with recurrent bacterial, viral, and fungal infections. Common infections include sinusitis, pneumonia, and skin infections. Patients often have severe eczema and may develop autoimmune disorders and malignancies such as lymphoma.

Genetics

The syndrome is caused by mutations in the DOCK8 gene, which is located on chromosome 9. The DOCK8 protein is involved in the regulation of the immune system, and its deficiency leads to impaired immune cell function.

Diagnosis

Diagnosis is based on clinical evaluation and confirmed by genetic testing to identify mutations in the DOCK8 gene. Laboratory findings typically show elevated levels of IgE and eosinophilia.

Treatment

The primary treatment for DOCK8 Immunodeficiency Syndrome is hematopoietic stem cell transplantation (HSCT), which can correct the underlying immune defect. Supportive care includes the management of infections, eczema, and other complications.

Prognosis

With appropriate treatment, including HSCT, the prognosis for individuals with DOCK8 Immunodeficiency Syndrome can be improved. However, without treatment, the condition can lead to significant morbidity and mortality due to infections and complications.

See also

• Primary immunodeficiency
• Hyper-IgE syndrome
• Genetic disorders

External links

• DOCK8 Immunodeficiency Syndrome at MedGen
• DOCK8 Immunodeficiency Syndrome at NIH