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Metadata
ID	DOID:0111951
Name	immunodeficiency 40
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. https://pubmed.ncbi.nlm.nih.gov/26083206/
Xrefs	GARD:12653 NCI:C176799 OMIM:616433 ORDO:447737 SNOMEDCT_US_2023_03_01:1197479002 UMLS_CUI:C4225328
Subsets	DO_rare_slim NCIthesaurus
Synonyms	DOCK2 deficiency [EXACT] IMD40 [EXACT]
Parent Relationships	is_a combined T cell and B cell immunodeficiency is_a autosomal recessive disease