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immunodeficiency 40
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease combined T cell and B cell immunodeficiency
External Links
- Disease Ontology
- DOID:0111951
- Mondo Disease Ontology
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
