Treatment Information

Treatment

Treating the symptoms is a priority. Monthly IVIG, antivirals, antibiotics, and antifungals are often administered. Multidisciplinary care is preferred with input from immunologists, dermatologists, infectious disease specialists, and ear, nose, throat specialists. CAT scans of the chest & sinus are performed as necessary. A curative treatment by hematopoietic cell transplantation is being researched. Germany has performed several successful stem cell transplants for DOCK8. NIH has done a couple stem cell transplants. Cincinnati Children's Hospital is undergoing it's first for DOCK8. Sloan-Kettering has done one for DOCK8.

Ear, Sinus, and Lung Infections
Most children experience these infections during childhood, but in DIDS these infections often occur more frequently than expected or are chronic.  Pneumonias are often recurrent and may lead to bronchiectasis.

Allergies & Asthma

Food and environmental allergies are prevalent. Many patients need to use inhalers or nebulizers to control asthma.

Eczema

The degree of eczema is variable ranging from largely absent to severe and difficult to control.

Recurrent Viral Infections

As the child ages, an increased number of viral infections of the skin are seen. Warts, molluscum, zoster (shingles) and herpes infections can be problematic.

Squamous Cell Carcinomas

These cancers have been seen in children and young adults.

Lymphomas

Cutaneous T-cell lymphoma and Burkitt’s lymphoma have been seen with this disease.

Laboratory Tests

Complete blood counts (CBCs) may show low levels of lymphocytes, particularly as children get older;  IgM levels may be low, and IgE levels are usually high. Antibody responses to prior vaccines may be absent, and some patients are given IVIG because of this.

GeneDx is the most used laboratory for the confirmation of DOCK8. GeneDx does the testing under "CLIA" conditions, which means they have the accreditation proving they know how to do this test. Since DOCK8 is such a huge gene, it is possible that they could miss a mutation if it wasn't a big deletion. There could be false negatives. (See the next  statement from GeneDx.)

DOCK8: Mutations in DOCK8 include both small sequence changes and gross deletions of one or more exons.5,6 Sequencing of the 47 exons of DOCK8 is not available at this time, but testing for gross deletions, accounting for 60% of the observed mutations in this gene, is offered for all exons. (GENEDx)