Dock8 deficiency

Autosomal recessively inherited combined T/B cell immunodeficiency (see SCID) caused by an autosomal recessive mutation of the "Dedicator of cytokinesis 8 protein"(DOCK8 gene).

DOCK8 deficiency is clinically characterized by childhood atopic eczema , allergies to food and environmental allergens, allergic asthma, recurrent sinubronchial infections, as well as extensive (clinically unusual) bacterial (pyoderma), viral(molluscum, viral warts) and mycotic skin infections(candidiasis) increased IgE, eosinophilia, decrease of T-, B-, Nk-cells as well as hypergammaglobulinemia. Furthermore, clustered anal, vulvar, penile and facial precancerous lesions and carcinomatosis.

The clinical symptoms of DOCK8 deficiency(autosomal recessive hyper IgE syndrome) are similar to the autosomal form of STAT3 deficiency. However, the skeletal changes of STAT3 deficiency are absent.

1. Aydin SE et al (2015) DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients. J Clin Immunol 35189-198.
2. Engelhardt KR et al. (2015)The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol 136:402-412.
3. Koskenvuo M et al. (2015) Severe atopy and allergy-rare hyper-IgE syndrome caused by the DOCK8 mutation as underlying condition. Duodecim 131:541-544.
4. Navabi B et al. (2016) Primary immunodeficiencies associated with eosinophilia. Allergy Asthma Clin Immunol 12:27.