About Dock8

DOCK8(DIDS) is described as:

Patients having recurrent ear & sinus infections, pneumonias, allergies, asthma, eczema, and recurrent viral skin infections such as shingles, molluscum, &  warts.  Elevated IgE levels, hypereosinophilia, low numbers of B & T cells, lymphopenia, low IgM levels, and variable IgG antibody responses are common. Cancers such as squamous cell carcinoma and lymphomas  are occurring frequently.
 

Diagnosis

DOCK8 is an immunodeficiency syndrome(DIDS) caused by autosomal recessive loss of function mutations in the DOCK8 gene. This disease exists in many ethnic groups. Diagnosis is typically found by looking for the DOCK8 protein expression and sequencing of the gene. Only certain laboratories and research groups are capable of performing this test.

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)