DOCK8 deficiency

Autosomal recessive - en

DOCK8 deficiency is a rare primary immunodeficiency disorder caused by mutations in the DOCK8 gene. This condition is characterized by a combination of severe allergies, recurrent viral infections, and an increased risk of developing certain types of cancer.

Genetics

DOCK8 deficiency is inherited in an autosomal recessive manner. The DOCK8 gene, located on chromosome 9, encodes the DOCK8 protein, which is essential for the proper functioning of the immune system. Mutations in this gene lead to a loss of function of the DOCK8 protein, resulting in impaired immune responses.

Clinical Features

Individuals with DOCK8 deficiency typically present with:

• Severe eczema
• Recurrent bacterial infections
• Recurrent viral infections, particularly with human papillomavirus (HPV), herpes simplex virus (HSV), and molluscum contagiosum
• Increased susceptibility to fungal infections
• Elevated levels of IgE antibodies
• Increased risk of developing lymphoma and other malignancies

Diagnosis

The diagnosis of DOCK8 deficiency is based on clinical features, family history, and genetic testing to identify mutations in the DOCK8 gene. Laboratory findings often include elevated IgE levels and eosinophilia.

Treatment

Management of DOCK8 deficiency involves:

• Prophylactic antibiotics to prevent infections
• Antiviral and antifungal treatments as needed
• Immunoglobulin replacement therapy
• Hematopoietic stem cell transplantation (HSCT) as a potential curative treatment

Prognosis

The prognosis for individuals with DOCK8 deficiency varies. Early diagnosis and appropriate management can improve outcomes, but the condition is associated with significant morbidity and mortality due to infections and malignancies.

Related Pages

• Primary immunodeficiency
• Autosomal recessive
• Immune system
• Eczema
• Human papillomavirus
• Herpes simplex virus
• Molluscum contagiosum
• IgE
• Lymphoma
• Hematopoietic stem cell transplantation