Term Name: immunodeficiency 40
Synonyms: DOCK2 deficiency, IMD40
Definition: A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1.
Ontology: Human Disease [DOID:0111951]   ( DOID:0111951 )

Relationships
is a type of: autosomal recessive disease combined T cell and B cell immunodeficiency