DOCK2-Associated Immunodeficiency

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive combined immunodeficiency caused by mutation(s) in the DOCK2 gene, encoding dedicator of cytokinesis protein 2. It is characterized by combined immunodeficiency, primarily affecting T-cells, with more variable defects in B-cell and NK-cell function, resulting in viral and bacterial infections that may lead to death in severe cases.

**Synonyms:** - DOCK2 Deficiency - DOCK2 Deficiency - IMD40 - Immunodeficiency 40