immunodeficiency 40

Term ID

DOID:0111951

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. https://pubmed.ncbi.nlm.nih.gov/26083206/

References

• GARD:12653
• NCI:C176799
• OMIM:616433
• ORDO:447737
• SNOMEDCT_US_2023_03_01:1197479002
• UMLS_CUI:C4225328

Ontology

Human Disease   ( DOID:0111951 )