immunodeficiency 40 (DOID:0111951)
Alliance: disease page
Synonyms: DOCK2 deficiency; IMD40
Alt IDs: OMIM:616433, NCI:C176799, ORDO:447737, UMLS_CUI:C4225328
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.