DOCK8 deficiency, also called DOCK8 immunodeficiency syndrome, is the autosomal recessive form of hyperimmunoglobulin E syndrome. It is a genetic disorder characterized by elevated immunoglobulin E levels, eosinophilia, and recurrent infections with staphylococcus and viruses. The condition is caused by a mutation in the DOCK8 gene. Its recurrent bacterial and viral infections, together with raised immunoglobulin E and eosinophil counts, are the features named in its definition, and its inheritance pattern separates it from other forms of hyperimmunoglobulin E syndrome.
Facts
Classification
Body SystemLymphatic or Immune System 1 ICD-10 ChapterIII: Diseases of the Blood and Blood-Forming Organs and Certain Disorders Involving the Immune Mechanism 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) Sources
1. DOCK8 deficiency (Wikipedia)
Lead, first paragraph
It is caused by a mutation in the DOCK8 gene.
Lead, first paragraph [body-system]
DOCK8 deficiency, also called DOCK8 immunodeficiency syndrome
lead sentence 1
DOCK8 deficiency, also called DOCK8 immunodeficiency syndrome, is the autosomal recessive form of hyperimmunoglobulin E syndrome, a genetic disorder characterized by elevated immunoglobulin E levels, eosinophilia, and recurrent infections with staphylococcus and viruses.
Lead: disease category
DOCK8 deficiency, also called DOCK8 immunodeficiency syndrome, is the autosomal recessive form of hyperimmunoglobulin E syndrome, a genetic disorder characterized by elevated immunoglobulin E levels, eosinophilia, and recurrent infections with staphylococcus and viruses.
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