DOCK8 DEFICIENCY

By Gary M. White, MD


Dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive innate error of immunity characterized by recurrent infections with viruses, bacteria, and fungi. Serum levels of immunoglobulin E are usually high.

Clinical

In the first several months of life patients develop an eczematous dermatitis in the classic atopic dermatitis distribution. The dermatitis is often resistant to treatment, and prone to secondary infection with both virus and bacteria. Patients may develop eczema herpeticum, diffuse molluscum, or widespread verruca. Patients are at higher risk for squamous cell carcinoma and lymphoma.

Systemic

The patient may develop any of a wide variety of infections, e.g., pneumonia, cellulitis, abscesses etc.

Treatment

An infectious disease specialist is critical in the patient's care. Treatment of the atopic dermatitis is often difficult. Constant monitoring and treatment of infection is needed. Oral antiviral agents, antibiotics, and "bleach baths" are employed.

Allogeneic hematopoietic stem cell transplant (HSCT) is the treatment of choice.

References

Severe herpetic stomatitis, generalized molluscum contagiosum with verrucous human papillomavirus infection, generalized verrucosis of the arm, extensive dermatitis with excoriations, and postauricular crusting. JAAD 2015;73, Issue 3, Pages 355–364.

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