Understanding DOCK8 Function in Health and Human Disease

National Institute Of Allergy And Infectious Diseases

Investigators

Linked publications, trials & patents

Abstract

DOCK8 deficiency is a combined immunodeficiency disease that is characterized by severe problems with recurrent, persistent, and progressive infections, especially of the skin. This is a major contributing factor to the high morbidity and mortality seen in this disease. However, another key feature of DOCK8 deficiency is the allergic disease: patients typically have severe eczematous dermatitis, asthma, and life-threatening food allergies, often accompanied by high levels of serum IgE and eosinophilia. Rarer complications include vasculopathy, cancer, and autoimmunity. In FY2018, we contributed to a reports which are currently under review investigating the viromes of DOCK8-deficientt patients and accumulated posttransplant outcomes. We have continued our investigations examining genotype-phenotype relationships of this disease, as well as collaborations investigating mechanisms of allergic manifestations of disease and outcomes after transplantation.