Cutaneous manifestations of DOCK8 deficiency syndrome.

ABSTRACT:

Background

Mutations in the dedicator of cytokinesis 8 gene (DOCK8) cause a combined primary immunodeficiency syndrome that is characterized by elevated serum IgE levels, depressed IgM levels, eosinophilia, sinopulmonary infections, cutaneous viral infections, and lymphopenia. Many patients with DOCK8 deficiency were previously thought to have a variant of Job's syndrome. Distinguishing between DOCK8 deficiency and Job's syndrome, also referred to as autosomal dominant hyper-IgE syndrome, on the basis of clinical findings alone is challenging. The discovery of the DOCK8 mutation has made it possible to differentiate the cutaneous manifestations of these hyper-IgE syndromes.

Observations

Twenty-one patients from 14 families with confirmed homozygous or compound heterozygous m

SUBMITTER: Chu EY 

PROVIDER: S-EPMC4103903 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature