Term Name: | immunodeficiency 40 |
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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 ) |