Search Ontology:
Human Disease

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
  • MIM:616433
  • NCI:C176799
  • ORDO:447737
  • SNOMEDCT_US_2023_03_01:1197479002
  • UMLS_CUI:C4225328
Ontology
Human Disease   ( DOID:0111951 )
Relationships
is a type of
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Genes Involved
Zebrafish Models