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

• OMIM:615387
• ORDO:397959
• UMLS_CUI:C3809332

Ontology

Human Disease   ( DOID:0111977 )