Human genes for immunodeficiency 40
Immunodeficiency 40 [DOID:0111951]
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 DOCK2 on chromosome 5q35.1.
Synonyms: immunodeficiency 40, DOID:0111951, DOCK2 deficiency, IMD40