DOCK8 Deficiency
- Inheritance: Autosomal recessive
- Gene: DOCK8
- Protein: DOCK8
- Tests: DOCK8 Gene Sequencing, DOCK8 protein by flow
Key Clinical and Laboratory Features
- Common clinical features: Recurrent bacterial sinopulmonary infections (typically not staphylococcal pneumonias like Hyper-IgE syndrome), severe atopic disease (asthma, allergies, anaphylaxis), eczema, and extensive cutaneous viral infections (Molluscum contagiosum, HPV, Varicella zoster) and susceptibility to cancer (lymphomas and cutaneous malignancies (HPV).
- Other clinical features: Recurrent skin abscesses and staphylococcal skin infections, mucocutaneous candidiasis, recurrent bowel infections (salmonella, giardia), cerebral vasculitis, autoimmune hemolytic anemia
- Physical exam: Eczema, severe and extensive cutaneous viral infections (HPV, Molluscum contagiousum)
- Common laboratory features: Lymphopenia (CD4+ T cells often most affected), decreased Th17 cells, immunoglobulin abnormalities (IgE elevated, IgM often low, IgG and IgA often normal), low T-cell numbers and NK-cell numbers, hypogammaglobulinemia (markedly low IgG level that becomes apparent after the loss of maternal antibodies as well as low or absent IgM and IgA), poor specific-antibody responses.