Search Ontology:
Human Disease

immunodeficiency 7

Term ID
DOID:0111977
Synonyms
  • IMD7
  • immunodeficiency 7, TCR-alpha/beta deficient
  • TCR-alpha-beta-positive T-cell deficiency
Definition
A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2. https://pubmed.ncbi.nlm.nih.gov/21206088/
References
Ontology
Human Disease   ( DOID:0111977 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models